Publications from OUS - Centre for Rare Disorders

132 publications found

Publications 2025

1. Andersen TM, Nørstebø E, Hov B (2025)
   Long-Term Mechanical Insufflation-Exsufflation Practice: A Norwegian National Survey After More Than 20 Years' Experience
   Respir Care, 70 (9), 1093-1102
   DOI 10.1089/respcare.12874, PubMed 40376772
2. Brandtzæg KH, von der Lippe C, Vestengen IK, Holtan JP, Winge MI, Rustad CF, Bergersen TK, Sigurdardottir S, Sjursen W, Gjersvik P, Hortemo KH (2025)
   Clinical and genetic findings in 103 individuals with basal cell naevus syndrome in Norway
   Br J Dermatol (in press)
   DOI 10.1093/bjd/ljaf413, PubMed 41129277
3. Chatziantoniou C, van Ewijk R, Adams M, Bertolini P, Bisogno G, Bouhamama A, Caro-Dominguez P, Charon V, Coma A, Dandis R, Devalck C, De Donno G, Ferrari A, Fiocco M, Gallego S, Giraudo C, Glosli H, Ter Horst SAJ, Jenney M, Klein WM, Leemans A, Leseur J, Mandeville HC, McHugh K, Merks JHM et al. (2025)
   Acquisition matters - how do scan parameters affect apparent diffusion coefficient estimates in pediatric rhabdomyosarcoma
   Pediatr Radiol, 55 (8), 1598-1610
   DOI 10.1007/s00247-025-06263-w, PubMed 40493048
4. de Kovel M, van Haaster AC, Carcao M, Ranta S, Glosli H, Rivard GE, Kenet G, Kurnik K, Van Geet C, Carvalho M, Andersson NG, Kartal-Kaess M, Ljung R, van den Berg HM, PedNet Study Group (2025)
   Blood Group O Does Not Increase the Risk of Inhibitors in Severe Haemophilia A: Data from the PedNet Study Group
   Haemophilia, 31 (3), 419-423
   DOI 10.1111/hae.70035, PubMed 40123267
5. Feragen KJB, Egedal S, Kjolaas SH (2025)
   Navigating competing needs: a qualitative study on parenthood with a partner with Huntington's disease
   Health Psychol Behav Med, 13 (1), 2465614
   DOI 10.1080/21642850.2025.2465614, PubMed 39968157
6. Feragen KJB, Gavelle P, Millgård M, Kljajić M (2025)
   A European Survey on Access to Mental Health Care Services Within ERN CRANIO
   J Craniofac Surg (in press)
   DOI 10.1097/SCS.0000000000011282, PubMed 40728917
7. Hellum M, Sletten M, Le MS, Stavseth V, Glosli H, Backe PH, Iversen N, Henriksson CE (2025)
   Characterization of a novel factor X variant, p.F139L, associated with bleedings in heterozygous and compound heterozygous form
   Thromb Res, 253, 109412
   DOI 10.1016/j.thromres.2025.109412, PubMed 40763424
8. Klamroth R, Al Saleh M, Glosli H, Schiavulli M, Guillet B, Bystrická L, Schönstein A, Lethagen S (2025)
   Immune Tolerance Induction With a Recombinant Factor VIII Fc in Haemophilia A: Data From a Chart Review Study
   Eur J Haematol, 115 (2), 134-141
   DOI 10.1111/ejh.14427, PubMed 40289300
9. Lee A, Bliksrud YT, Onali M, Neugebauer J, Eyskens F, Haas D, Mossler K, Enekwe A, Kiec-Wilk B, Diep LM, Bellettato CM, Zernikow B, Scarpa M, Rahman S, Tangeraas T, MetabERN collaboration group on palliative care (2025)
   Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care
   J Inherit Metab Dis, 48 (6), e70095
   DOI 10.1002/jimd.70095, PubMed 41137497
10. Mandeville HC, Bisogno G, Minard-Colin V, Alaggio R, Ben-Arush M, Chargari C, Coppadoro B, Craigie R, Devalck C, Ferman S, Ferrari A, Glosli H, Alvaro RH, Hol M, Mudry P, Orbach D, Albiac MR, Merks JHM, Jenney MEM (2025)
    Reply to "Toward a reduction in the burden of therapy in patients with rhabdomyosarcoma. How much is enough?"
    Cancer, 131 (4), e35744
    DOI 10.1002/cncr.35744, PubMed 39916392
11. Møinichen UI, Mikkelsen A, Jensen UL, Birketvedt K, Mørkrid L, IJsselstijn H, Emblem R (2025)
    Longitudinal assessments of motor performance and musculoskeletal abnormalities in preschool children with esophageal atresia
    Early Hum Dev, 206, 106273
    DOI 10.1016/j.earlhumdev.2025.106273, PubMed 40347806
12. Rogne AG, Raudeberg R, Sigurdardottir S, Dahlberg D (2025)
    Cognitive impairments during the acute phase of bacterial brain abscess and long-term neuropsychological profiles: a case series study
    J Clin Exp Neuropsychol, 47 (4), 372-385
    DOI 10.1080/13803395.2025.2516243, PubMed 40485191
13. Roman G, Lauritzen KH, Harrison SP, Bhattacharya A, Andresen MS, Mowinckel MC, Smolkova B, Henriksson CE, Glosli H, Iversen N, Thiede B, Sullivan GJ, Almaas R, Sandset PM, Stavik B, Chollet ME (2025)
    Ex vivo correction of severe coagulation Factor VII deficiency in patient-derived 3D liver organoids
    Haematologica (in press)
    DOI 10.3324/haematol.2025.288046, PubMed 41063698
14. Rustad CF, Bragadottir R, Nordgarden H, Miller JUU, Weedon-Fekjær MS, Arfa S, Åsten PM, Tveten K, von der Lippe C, Sigurdardottir S (2025)
    Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway
    BMJ Open, 15 (4), e095986
    DOI 10.1136/bmjopen-2024-095986, PubMed 40262952
15. Rustad CF, Bragadottir R, Tveten K, Nordgarden H, Miller JU, Åsten PM, Vasconcelos G, Kulseth MA, Holla ØL, Olsen HG, von der Lippe C, Sigurdardottir S (2025)
    Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway
    Orphanet J Rare Dis, 20 (1), 127
    DOI 10.1186/s13023-025-03641-3, PubMed 40087798
16. Ullmann Miller J, Fauske L, Sigurdardottir S, Arfa S, von der Lippe C (2025)
    'In the dark': parents' lifelong commitment to supporting children with Bardet-Biedl syndrome
    Health Psychol Behav Med, 13 (1), 2467432
    DOI 10.1080/21642850.2025.2467432, PubMed 39968158

Publications 2024

1. Birketvedt K, Mikkelsen A, Hanssen R, Schiørbeck H, IJsselstijn H, Henriksen C, Emblem R (2024)
   Feeding difficulties, food intake, and growth in children with esophageal atresia
   JPGN Rep, 5 (4), 462-469
   DOI 10.1002/jpr3.12136, PubMed 39610409
2. Daae E, Feragen KB, Naerland T, von der Lippe C (2024)
   When care hurts: parents' experiences of caring for a child with epidermolysis bullosa
   Orphanet J Rare Dis, 19 (1), 492
   DOI 10.1186/s13023-024-03502-5, PubMed 39731109
3. Hov B, Andersen T, Toussaint M, Mikalsen IB, Vollsæter M, Brunborg C, Hovde M, Hovland V (2024)
   Mechanically assisted cough strategies: user perspectives and cough flows in children with neurodisability
   ERJ Open Res, 10 (1)
   DOI 10.1183/23120541.00274-2023, PubMed 38196892
4. Kittelsen TB, Castor C, Lee A, Kvarme LG, Winger A (2024)
   "What about me?": lived experiences of siblings living with a brother or sister with a life-threatening or life-limiting condition
   Int J Qual Stud Health Well-being, 19 (1), 2321645
   DOI 10.1080/17482631.2024.2321645, PubMed 38404038
5. Kittelsen TB, Castor C, Lee A, Kvarme LG, Winger A (2024)
   Focusing on life rather than illness: the lived experience of children with life-threatening and life-limiting conditions-a qualitative study
   Palliat Care Soc Pract, 18, 26323524241301431
   DOI 10.1177/26323524241301431, PubMed 39618726
6. Kittelsen TB, Lorentsen VB, Castor C, Lee A, Kvarme LG, Winger A (2024)
   It's about living a normal life: parents' quality of life when their child has a life-threatening or life-limiting condition - a qualitative study
   BMC Palliat Care, 23 (1), 92
   DOI 10.1186/s12904-024-01417-3, PubMed 38589835
7. Kling J, Billaud Feragen K (2024)
   Experiences of appearance conversations among young people living with a visible difference
   Body Image, 49, 101699
   DOI 10.1016/j.bodyim.2024.101699, PubMed 38489964
8. Ljung R, Chan AKC, Ahuja SP, Mancuso ME, Marquez JFC, Volk F, Blanchette V, Kerlin BA, Trakymiene SS, Glosli H, Kenet G (2024)
   BAY 81-8973 Demonstrates Long-Term Safety and Efficacy in Children With Severe Haemophilia A: Results From the LEOPOLD Kids Extension Study
   Eur J Haematol, 114 (3), 556-565
   DOI 10.1111/ejh.14362, PubMed 39667975
9. Mandeville HC, Bisogno G, Minard-Colin V, Alaggio R, Ben-Arush M, Chargari C, Coppadoro B, Craigie R, Devalck C, Ferman S, Ferrari A, Glosli H, Alvaro RH, Hol M, Mudry P, Orbach D, Albiac MR, Merks JHM, Jenney MEM (2024)
   Localized incompletely resected standard risk rhabdomyosarcoma in children and adolescents: Results from the European Paediatric Soft Tissue Sarcoma Study Group RMS 2005 trial
   Cancer, 130 (23), 4071-4084
   DOI 10.1002/cncr.35497, PubMed 39058728
10. Mediå LM, Fauske L, Sigurdardottir S, Billaud Feragen KJ, Waehre A (2024)
    Differences of sex development and surgical decisions: focus group interviews with health care professionals in Norway
    Health Psychol Behav Med, 12 (1), 2371134
    DOI 10.1080/21642850.2024.2371134, PubMed 38979393
11. Mårtensson A, Letelier A, Manderstedt E, Glosli H, Ljung R (2024)
    Origin of pathogenic variant and mosaicism in families with a sporadic case of haemophilia B
    Haemophilia, 30 (3), 774-779
    DOI 10.1111/hae.15019, PubMed 38632836
12. Rogne AG, Sigurdardottir S, Raudeberg R, Hassel B, Dahlberg D (2024)
    Cognitive and everyday functioning after bacterial brain abscess: a prospective study of functional recovery from 8 weeks to 1 year post-treatment
    Brain Inj, 38 (10), 787-795
    DOI 10.1080/02699052.2024.2347565, PubMed 38676705
13. Rogne AG, Sigurdardottir S, Raudeberg R, Hassel B, Dahlberg D (2024)
    Fatigue and depression at 8 weeks and 1 year after bacterial brain abscess and their relationship with cognitive status
    Neuropsychol Rehabil, 35 (6), 1136-1159
    DOI 10.1080/09602011.2024.2393361, PubMed 39205631
14. Rustad CF, Backe PH, Jin C, Merckoll E, Tveten K, Maciej-Hulme ML, Karlsson N, Prescott T, Sand ES, Woldseth B, Elgstøen KBP, Holla ØL (2024)
    A monoallelic UXS1 variant associated with short-limbed short stature
    Mol Genet Genomic Med, 12 (6), e2472
    DOI 10.1002/mgg3.2472, PubMed 38860481
15. Stock NM, Costa B, Parnell J, Johns AL, Crerand CE, Billaud Feragen K, Stueckle LP, Mills A, Magee L, Hotton M, Tumblin M, Schefer A, Drake AF, Heike CL (2024)
    A Conceptual Thematic Framework of Psychological Adjustment in Caregivers of Children with Craniofacial Microsomia
    Cleft Palate Craniofac J, 62 (7), 1228-1240
    DOI 10.1177/10556656241245284, PubMed 38584503
16. van der Zwet K, de Kovel M, Motwani J, van Geet C, Nolan B, Glosli H, Escuriola Ettingshausen C, Königs C, Kenet G, Fischer K, PedNet Investigators (2024)
    Bleeding control improves after switching to emicizumab: Real-world experience of 177 children in the PedNet registry
    Haemophilia, 30 (3), 685-692
    DOI 10.1111/hae.15015, PubMed 38578720

Publications 2023

1. Bisogno G, Minard-Colin V, Zanetti I, Ferrari A, Gallego S, Dávila Fajardo R, Mandeville H, Kelsey A, Alaggio R, Orbach D, Terwisscha van Scheltinga S, Guillén Burrieza G, Ben-Arush M, Glosli H, Mudry P, Ferman S, Devalck C, Defachelles AS, Merks JHM, Jenney M (2023)
   Nonmetastatic Rhabdomyosarcoma in Children and Adolescents: Overall Results of the European Pediatric Soft Tissue Sarcoma Study Group RMS2005 Study
   J Clin Oncol, 41 (13), 2342-2349
   DOI 10.1200/JCO.22.02093, PubMed 36848614
2. Borgen IMH, Løvstad M, Hauger SL, Forslund MV, Kleffelgård I, Andelic N, Sveen U, Søberg HL, Sigurdardottir S, Winter L, Lindstad MØ, Brunborg C, Røe C (2023)
   Effect of an Individually Tailored and Home-Based Intervention in the Chronic Phase of Traumatic Brain Injury: A Randomized Clinical Trial
   JAMA Netw Open, 6 (5), e2310821
   DOI 10.1001/jamanetworkopen.2023.10821, PubMed 37145600
3. Ghetti CM, Gaden TS, Bieleninik L, Kvestad I, Assmus J, Stordal AS, Aristizabal Sanchez LF, Arnon S, Dulsrud J, Elefant C, Epstein S, Ettenberger M, Glosli H, Konieczna-Nowak L, Lichtensztejn M, Lindvall MW, Mangersnes J, Murcia Fernández LD, Røed CJ, Saá G, Van Roy B, Vederhus BJ, Gold C (2023)
   Effect of Music Therapy on Parent-Infant Bonding Among Infants Born Preterm: A Randomized Clinical Trial
   JAMA Netw Open, 6 (5), e2315750
   DOI 10.1001/jamanetworkopen.2023.15750, PubMed 37234006
4. Holmen H, Winger A, Steindal SA, Riiser K, Castor C, Kvarme LG, Mariussen KL, Lee A (2023)
   Patient-reported outcome measures in children, adolescents, and young adults with palliative care needs-a scoping review
   BMC Palliat Care, 22 (1), 148
   DOI 10.1186/s12904-023-01271-9, PubMed 37798706
5. Hov B, Andersen T, Toussaint M, Mikalsen IB, Vollsaeter M, Markussen H, Indrekvam S, Hovland V (2023)
   User-perceived impact of long-term mechanical assisted cough in paediatric neurodisability
   Dev Med Child Neurol, 65 (5), 655-663
   DOI 10.1111/dmcn.15543, PubMed 36787316
6. Jacob P, Lindelöf H, Rustad CF, Sutton VR, Moosa S, Udupa P, Hammarsjö A, Bhavani GS, Batkovskyte D, Tveten K, Dalal A, Horemuzova E, Nordgren A, Tham E, Shah H, Merckoll E, Orellana L, Nishimura G, Girisha KM, Grigelioniene G (2023)
   Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
   NPJ Genom Med, 8 (1), 39
   DOI 10.1038/s41525-023-00380-x, PubMed 37993442
7. Landsend ECS, von der Lippe C, Mediå L, Miller JU, Berge KE, Sigurdardottir S (2023)
   Relationship between physical and psychological functioning and health-related quality of life in congenital Aniridia
   Acta Ophthalmol, 102 (5), 590-599
   DOI 10.1111/aos.16615, PubMed 38131258
8. Lindberg NE, Kynø NM, Billaud Feragen K, Pripp AH, Tønseth KA (2023)
   Early Follow-up of Parents by a Specialized Cleft Nurse After the Birth of an Infant with Cleft lip and/or Palate
   Cleft Palate Craniofac J, 61 (8), 1369-1382
   DOI 10.1177/10556656231171750, PubMed 37151047
9. Ljung R, Chan AKC, Glosli H, Afonja O, Becker B, Tseneklidou-Stoeter D, Mancuso ME, Saulyte-Trakymiene S, Kenet G (2023)
   BAY 81-8973 Efficacy and Safety in Previously Untreated and Minimally Treated Children with Severe Hemophilia A: The LEOPOLD Kids Trial
   Thromb Haemost, 123 (1), 27-39
   DOI 10.1055/s-0042-1757876, PubMed 36626898
10. Lu J, Rasmussen MS, Sigurdardottir S, Forslund MV, Howe EI, Fure SCR, Løvstad M, Overeem R, Røe C, Andelic N (2023)
    Community Integration and Associated Factors 10 Years after Moderate-to-Severe Traumatic Brain Injury
    J Clin Med, 12 (2)
    DOI 10.3390/jcm12020405, PubMed 36675333
11. Matlary RED, Grydeland M, Glosli H, Rueegg CS, Holme PA (2023)
    Physical activity in Norwegian teenagers and young adults with haemophilia A compared to general population peers
    Haemophilia, 29 (2), 658-667
    DOI 10.1111/hae.14752, PubMed 36723510
12. Matlary RED, Grydeland M, Glosli H, Rueegg CS, Holme PA (2023)
    Factors associated with physical activity in young people with haemophilia A on prophylaxis
    Haemophilia, 29 (3), 900-909
    DOI 10.1111/hae.14776, PubMed 36913380
13. Mediå LM, Sigurdardottir S, Fauske L, Waehre A (2023)
    Understanding sexual health concerns among adolescents and young adults with differences of sex development: a qualitative study
    Int J Qual Stud Health Well-being, 18 (1), 2204635
    DOI 10.1080/17482631.2023.2204635, PubMed 37092307
14. Millgård M, Myhre A, Due-Tønnessen BJ, Billaud Feragen KJ (2023)
    Parents' Perception of the Benefit of Receiving a Patient Information Leaflet Prior to Attending a Craniofacial Multidisciplinary Team Appointment
    Cleft Palate Craniofac J, 62 (3), 527-533
    DOI 10.1177/10556656231219579, PubMed 38092729
15. Myhre A, Råbu M, Feragen KB (2023)
    Are We Together in This? Relationship Experiences of Parents of Children with Craniofacial Anomalies
    Cleft Palate Craniofac J, 61 (10), 1646-1656
    DOI 10.1177/10556656231180512, PubMed 37282504
16. Sigurdardottir S, von der Lippe C, Media L, Ullmann Miller J, Landsend ECS (2023)
    Self-reported symptoms of everyday executive dysfunction, daytime sleepiness, and fatigue and health status among adults with congenital aniridia: a descriptive study
    Health Psychol Behav Med, 11 (1), 2263534
    DOI 10.1080/21642850.2023.2263534, PubMed 37811316
17. Zelihić D, Feragen KJB, Pripp AH, Nordgreen T, Williamson H, Kling J (2023)
    Predictors of Adolescents' Response to a Web-Based Intervention to Improve Psychosocial Adjustment to Having an Appearance-Affecting Condition (Young Person's Face IT): Prospective Study
    JMIR Form Res, 7, e35669
    DOI 10.2196/35669, PubMed 36652281
18. Aasen ERHV, Søvik ML, Størdal K, Lee A (2023)
    Are We on the Same Page? Exploring Pediatric Patients' Involvement With Advance Care Planning
    J Pain Symptom Manage, 66 (3), e353-e363
    DOI 10.1016/j.jpainsymman.2023.04.003, PubMed 37054956

Publications 2022

1. Borgen IMH, Hauger SL, Forslund MV, Kleffelgård I, Brunborg C, Andelic N, Sveen U, Søberg HL, Sigurdardottir S, Røe C, Løvstad M (2022)
   Goal Attainment in an Individually Tailored and Home-Based Intervention in the Chronic Phase after Traumatic Brain Injury
   J Clin Med, 11 (4)
   DOI 10.3390/jcm11040958, PubMed 35207231
2. Chargari C, Haie-Meder C, Espenel S, Garcia MA, Ben-Arush M, Bolle S, Borjesson A, Cesen M, Lago RC, Defachelles AS, De Moerloose B, Devalck C, Edslev P, Farinha NJ, Francotte N, Glosli H, Gouy S, Burrieza GG, Helfre S, Irtan S, Kattamis A, Lacerda A, Levy A, Hjalgrim LL, Mansuy L et al. (2022)
   Brachytherapy for Pediatric Patients at Gustave Roussy Cancer Campus: A Model of International Cooperation for Highly Specialized Treatments
   Int J Radiat Oncol Biol Phys, 113 (3), 602-613
   DOI 10.1016/j.ijrobp.2022.03.003, PubMed 35278672
3. Daae E, Feragen KB, Sitek JC, von der Lippe C (2022)
   It's more than just lubrication of the skin: parents' experiences of caring for a child with ichthyosis
   Health Psychol Behav Med, 10 (1), 335-356
   DOI 10.1080/21642850.2022.2053685, PubMed 35402085
4. Hellstrøm T, Andelic N, Holthe ØØ, Helseth E, Server A, Eiklid K, Sigurdardottir S (2022)
   APOE-ε4 Is Associated With Reduced Verbal Memory Performance and Higher Emotional, Cognitive, and Everyday Executive Function Symptoms Two Months After Mild Traumatic Brain Injury
   Front Neurol, 13, 735206
   DOI 10.3389/fneur.2022.735206, PubMed 35250800
5. Johns AL, Stock NM, Costa B, Billaud Feragen K, Crerand CE (2022)
   Psychosocial and Health-Related Experiences of Individuals With Microtia and Craniofacial Microsomia and Their Families: Narrative Review Over 2 Decades
   Cleft Palate Craniofac J, 60 (9), 1090-1112
   DOI 10.1177/10556656221091699, PubMed 35382590
6. Matlary RED, Holme PA, Glosli H, Rueegg CS, Grydeland M (2022)
   Comparison of free-living physical activity measurements between ActiGraph GT3X-BT and Fitbit Charge 3 in young people with haemophilia
   Haemophilia, 28 (6), e172-e180
   DOI 10.1111/hae.14624, PubMed 35830613
7. Mediå LM, Fauske L, Sigurdardottir S, Feragen KJB, Heggeli C, Wæhre A (2022)
   'It was Supposed to be a Secret': a study of disclosure and stigma as experienced by adults with differences of sex development
   Health Psychol Behav Med, 10 (1), 579-595
   DOI 10.1080/21642850.2022.2102018, PubMed 35898596
8. Millgård M, Feragen KB, Ullmann Miller J, Arfa S, Williamson H, Kling J (2022)
   Adolescents and parents' perception of Young Person's Face IT: An online intervention for adolescents struggling with conditions affecting their appearance
   Digit Health, 8, 20552076221147110
   DOI 10.1177/20552076221147110, PubMed 36601286
9. Riiser K, Holmen H, Winger A, Steindal SA, Castor C, Kvarme LG, Lee A, Lorentsen VB, Misvaer N, Früh EA (2022)
   Stories of paediatric palliative care: a qualitative study exploring health care professionals' understanding of the concept
   BMC Palliat Care, 21 (1), 187
   DOI 10.1186/s12904-022-01077-1, PubMed 36273144
10. Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K (2022)
    A woman in her fifties with chronic muscle weakness
    Tidsskr Nor Laegeforen, 142 (1)
    DOI 10.4045/tidsskr.21.0038, PubMed 35026081
11. Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K (2022)
    [Correction: A woman in her fifties with chronic muscle weakness]
    Tidsskr Nor Laegeforen, 142 (2)
    DOI 10.4045/tidsskr.22.0032, PubMed 35107936
12. von der Lippe C, Neteland I, Feragen KB (2022)
    Children with a rare congenital genetic disorder: a systematic review of parent experiences
    Orphanet J Rare Dis, 17 (1), 375
    DOI 10.1186/s13023-022-02525-0, PubMed 36253830
13. Winger A, Früh EA, Holmen H, Kvarme LG, Lee A, Lorentsen VB, Misvær N, Riiser K, Steindal SA (2022)
    Making room for life and death at the same time - a qualitative study of health and social care professionals' understanding and use of the concept of paediatric palliative care
    BMC Palliat Care, 21 (1), 50
    DOI 10.1186/s12904-022-00933-4, PubMed 35410275

Publications 2021

1. Andersen E, Chollet ME, Sletten M, Stavik B, Skarpen E, Backe PH, Thiede B, Glosli H, Henriksson CE, Iversen N (2021)
   Molecular Characterization of Two Homozygous Factor VII Variants Associated with Intracranial Bleeding
   Thromb Haemost, 121 (12), 1588-1598
   DOI 10.1055/a-1450-8568, PubMed 33742435
2. Andersen TM, Hov B, Halvorsen T, Røksund OD, Vollsæter M (2021)
   Upper Airway Assessment and Responses During Mechanically Assisted Cough
   Respir Care, 66 (7), 1196-1213
   DOI 10.4187/respcare.08960, PubMed 33579747
3. Bergeron C, Jenney M, De Corti F, Gallego S, Merks H, Glosli H, Ferrari A, Ranchère-Vince D, De Salvo GL, Zanetti I, Chisholm J, Minard-Colin V, Rogers T, Bisogno G, European paediatric Soft tissue sarcoma Study Group (EpSSG) (2021)
   Embryonal rhabdomyosarcoma completely resected at diagnosis: The European paediatric Soft tissue sarcoma Study Group RMS2005 experience
   Eur J Cancer, 146, 21-29
   DOI 10.1016/j.ejca.2020.12.025, PubMed 33567392
4. Feragen KJB, Myhre A, Stock NM (2021)
   "Will You Still Feel Beautiful When You Find Out You Are Different?": Parents' Experiences, Reflections, and Appearance-Focused Conversations About Their Child's Visible Difference
   Qual Health Res, 32 (1), 3-15
   DOI 10.1177/10497323211039205, PubMed 34596475
5. Forslund MV, Perrin PB, Sigurdardottir S, Howe EI, van Walsem MR, Arango-Lasprilla JC, Lu J, Aza A, Jerstad T, Røe C, Andelic N (2021)
   Health-Related Quality of Life Trajectories across 10 Years after Moderate to Severe Traumatic Brain Injury in Norway
   J Clin Med, 10 (1)
   DOI 10.3390/jcm10010157, PubMed 33466321
6. Grimstvedt TN, Miller JU, van Walsem MR, Feragen KJB (2021)
   Speech and language difficulties in Huntington's disease: A qualitative study of patients' and professional caregivers' experiences
   Int J Lang Commun Disord, 56 (2), 330-345
   DOI 10.1111/1460-6984.12604, PubMed 33577706
7. Holmen H, Winger A, Steindal SA, Castor C, Kvarme LG, Riiser K, Mariussen KL, Lee A (2021)
   Patient-reported outcome measures in pediatric palliative care-a protocol for a scoping review
   Syst Rev, 10 (1), 237
   DOI 10.1186/s13643-021-01791-6, PubMed 34454605
8. Hov B, Andersen T, Toussaint M, Vollsaeter M, Mikalsen IB, Indrekvam S, Hovland V (2021)
   Prevalence of long-term mechanical insufflation-exsufflation in children with neurological conditions: a population-based study
   Dev Med Child Neurol, 63 (5), 537-544
   DOI 10.1111/dmcn.14797, PubMed 33393110
9. Lepola P, Kindred M, Giannuzzi V, Glosli H, Dehlinger-Kremer M, Dalrymple H, Neubauer D, Boylan GB, Conway J, Dewhurst J, Hoffman D (2021)
   Informed consent and assent guide for paediatric clinical trials in Europe
   Arch Dis Child, 107 (6), 582-590
   DOI 10.1136/archdischild-2021-322798, PubMed 34853000
10. Myhre A, Råbu M, Feragen KJB (2021)
    The need to belong: Subjective experiences of living with craniofacial conditions and undergoing appearance-altering surgery
    Body Image, 38, 334-345
    DOI 10.1016/j.bodyim.2021.05.008, PubMed 34087543
11. Pihlstrøm HK, Weedon-Fekjær MS, Bjerkely BL, von der Lippe C, Ørstavik K, Mathisen P, Heimdal K, Jenssen TG, Dahle DO, Solberg OK, Sigurdardottir S (2021)
    Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress
    JIMD Rep, 62 (1), 56-69
    DOI 10.1002/jmd2.12240, PubMed 34765399
12. Schultz NH, Glosli H, Bjørnsen S, Holme PA (2021)
    The effect of emicizumab and bypassing agents in patients with hemophilia - An in vitro study
    Res Pract Thromb Haemost, 5 (5), e12561
    DOI 10.1002/rth2.12561, PubMed 34263107
13. Sigurdardottir S, Bjerkely B, Jenssen TG, Mathisen P, von der Lippe C, Ørstavik K, Heimdal K, Dahle DO, Weedon-Fekjær MS, Solberg O, Pihlstrøm HK (2021)
    The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease
    Orphanet J Rare Dis, 16 (1), 427
    DOI 10.1186/s13023-021-02066-y, PubMed 34641933

Publications 2020

1. Andelic N, Forslund MV, Perrin PB, Sigurdardottir S, Lu J, Howe EI, Sveen U, Rasmussen MS, Søberg HL, Røe C (2020)
   Long-term follow-up of use of therapy services for patients with moderate-to-severe traumatic brain injury
   J Rehabil Med, 52 (3), jrm00034
   DOI 10.2340/16501977-2662, PubMed 32179933
2. Birketvedt K, Mikkelsen A, Klingen LL, Henriksen C, Helland IB, Emblem R (2020)
   Nutritional Status in Adolescents with Esophageal Atresia
   J Pediatr, 218, 130-137
   DOI 10.1016/j.jpeds.2019.11.034, PubMed 31982089
3. Brede KK, Wandel M, Wiig I, von der Lippe C (2020)
   Primary Immunodeficiency Diseases and Gastrointestinal Distress: Coping Strategies and Dietary Experiences to Relieve Symptoms
   Qual Health Res, 31 (2), 361-372
   DOI 10.1177/1049732320967908, PubMed 33146080
4. Lee A (2020)
   Private paediatric hospice - is it such a bad idea?
   Tidsskr Nor Laegeforen, 140 (16)
   DOI 10.4045/tidsskr.20.0784, PubMed 33172250
5. Lee A (2020)
   Private children's hospice - is it that dangerous then?
   Tidsskr. Nor. Laegeforen., 140 (16), 1619-1620
6. Rogne AG, Müller EG, Udnaes E, Sigurdardottir S, Raudeberg R, Connelly JP, Revheim ME, Hassel B, Dahlberg D (2020)
   β-Amyloid may accumulate in the human brain after focal bacterial infection: An ¹⁸ F-flutemetamol positron emission tomography study
   Eur J Neurol, 28 (3), 877-883
   DOI 10.1111/ene.14622, PubMed 33131195
7. Skjefstad K, Solberg O, Glosli H, von der Lippe C, Feragen KB (2020)
   Life expectancy and cause of death in individuals with haemophilia A and B in Norway, 1986-2018
   Eur J Haematol, 105 (5), 608-615
   DOI 10.1111/ejh.13494, PubMed 32710483
8. Sorensen IW, Prescott T, Rustad CF, Blinkenberg EO, von der Lippe C (2020)
   Gene panel testing
   Tidsskr. Nor. Laegeforen., 140 (3), 224-227
9. Tillerås KH, Kjoelaas SH, Dramstad E, Feragen KB, von der Lippe C (2020)
   Psychological reactions to predictive genetic testing for Huntington's disease: A qualitative study
   J Genet Couns, 29 (6), 1093-1105
   DOI 10.1002/jgc4.1245, PubMed 32162754
10. Tønne E, Due-Tønnessen BJ, Mero IL, Wiig US, Kulseth MA, Vigeland MD, Sheng Y, von der Lippe C, Tveten K, Meling TR, Helseth E, Heimdal KR (2020)
    Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
    Eur J Hum Genet, 29 (6), 920-929
    DOI 10.1038/s41431-020-00788-4, PubMed 33288889
11. Umbaugh HM, Crerand CE, Stock NM, Luquetti DV, Heike CL, Drake AF, Billaud Feragen KJ, Johns AL (2020)
    Microtia and craniofacial microsomia: Content analysis of facebook groups
    Int J Pediatr Otorhinolaryngol, 138, 110301
    DOI 10.1016/j.ijporl.2020.110301, PubMed 32838996
12. van Walsem MR, Howe EI, Perrin PB, Sigurdardottir S, Røe C, Sveen U, Lu J, Forslund MV, Andelic N (2020)
    Trajectories of self-reported competency up to 10 years following moderate-to-severe traumatic brain injury
    Brain Inj, 34 (3), 335-342
    DOI 10.1080/02699052.2019.1704061, PubMed 31928233

Publications 2019

1. Andersen JB, Midttun K, Feragen KJB (2019)
   Measuring quality of life of primary antibody deficiency patients using a disease-specific health-related quality of life questionnaire for common variable immunodeficiency (CVID_QoL)
   J Patient Rep Outcomes, 3 (1), 15
   DOI 10.1186/s41687-019-0101-x, PubMed 30806830
2. Billaud Feragen K, Myhre A, Stock NM (2019)
   "Exposed and Vulnerable": Parent Reports of Their Child's Experience of Multidisciplinary Craniofacial Consultations
   Cleft Palate Craniofac J, 56 (9), 1230-1238
   DOI 10.1177/1055665619851650, PubMed 31142141
3. Feragen KB, Stock NM, Myhre A, Due-Tønnessen BJ (2019)
   Medical Stress Reactions and Personal Growth in Parents of Children With a Rare Craniofacial Condition
   Cleft Palate Craniofac J, 57 (2), 228-237
   DOI 10.1177/1055665619869146, PubMed 31426676
4. Hov B, Andersen T, Toussaint M, Fondenes O, Carlsen KCL, Hovland V (2019)
   Optimizing expiratory flows during mechanical cough in a pediatric neuromuscular lung model
   Pediatr Pulmonol, 55 (2), 433-440
   DOI 10.1002/ppul.24606, PubMed 31856413
5. Impieri D, Tønseth KA, Hide Ø, Feragen KJB, Høgevold HE, Filip C (2019)
   Autologous fat transplantation to the velopharynx for treating mild velopharyngeal insufficiency: A 10-year experience
   J Plast Reconstr Aesthet Surg, 72 (8), 1403-1410
   DOI 10.1016/j.bjps.2019.03.040, PubMed 31103609
6. Lee A (2019)
   [Palliative follow-up of children with univentricular hearts]
   Tidsskr Nor Laegeforen, 139 (8)
   DOI 10.4045/tidsskr.19.0275, PubMed 31062564
7. Lee A (2019)
   Palliative follow-up of children with univentricular hearts
   Tidsskr. Nor. Laegeforen., 139 (8), 686-687
8. Lee A, Holmstrom H (2019)
   When children should not be old
   Tidsskr. Nor. Laegeforen., 139 (7), 581
9. Lee A, Holmstrøm H (2019)
   When children will not grow old
   Tidsskr Nor Laegeforen, 139 (7)
   DOI 10.4045/tidsskr.19.0210, PubMed 30969039
10. Myhre A, Agai M, Dundas I, Feragen KB (2019)
    "All Eyes on Me": A Qualitative Study of Parent and Patient Experiences of Multidisciplinary Care in Craniofacial Conditions
    Cleft Palate Craniofac J, 56 (9), 1187-1194
    DOI 10.1177/1055665619842730, PubMed 31010312
11. Naumburg E, Rane A, Halvorsen T, Glosli H, Henriksen TB, Haraldsson À, Kallio J, Lepola P (2019)
    Tardy development of safe medicines for children: a Nordic network offers new platform to reduce this inequity
    Acta Paediatr, 108 (6), 992-993
    DOI 10.1111/apa.14775, PubMed 30844088
12. Skou AS, Olsen SØ, Nielsen LH, Glosli H, Jahnukainen K, Jarfelt M, Jónmundsson GK, Malmros J, Nysom K, Hasle H, Nordic Society of Pediatric Hematology and Oncology (NOPHO) (2019)
    Hearing Status in Survivors of Childhood Acute Myeloid Leukemia Treated With Chemotherapy Only: A NOPHO-AML Study
    J Pediatr Hematol Oncol, 41 (1), e12-e17
    DOI 10.1097/MPH.0000000000001302, PubMed 30550508

Publications 2018

1. Bisogno G, Jenney M, Bergeron C, Gallego Melcón S, Ferrari A, Oberlin O, Carli M, Stevens M, Kelsey A, De Paoli A, Gaze MN, Martelli H, Devalck C, Merks JH, Ben-Arush M, Glosli H, Chisholm J, Orbach D, Minard-Colin V, De Salvo GL, European paediatric Soft tissue sarcoma Study Group (2018)
   Addition of dose-intensified doxorubicin to standard chemotherapy for rhabdomyosarcoma (EpSSG RMS 2005): a multicentre, open-label, randomised controlled, phase 3 trial
   Lancet Oncol, 19 (8), 1061-1071
   DOI 10.1016/S1470-2045(18)30337-1, PubMed 29941280
2. Chatwin M, Toussaint M, Gonçalves MR, Sheers N, Mellies U, Gonzales-Bermejo J, Sancho J, Fauroux B, Andersen T, Hov B, Nygren-Bonnier M, Lacombe M, Pernet K, Kampelmacher M, Devaux C, Kinnett K, Sheehan D, Rao F, Villanova M, Berlowitz D, Morrow BM (2018)
   Airway clearance techniques in neuromuscular disorders: A state of the art review
   Respir Med, 136, 98-110
   DOI 10.1016/j.rmed.2018.01.012, PubMed 29501255
3. Daae E, Feragen KB, Nermoen I, Falhammar H (2018)
   Psychological adjustment, quality of life, and self-perceptions of reproductive health in males with congenital adrenal hyperplasia: a systematic review
   Endocrine, 62 (1), 3-13
   DOI 10.1007/s12020-018-1723-0, PubMed 30128958
4. Gallego S, Zanetti I, Orbach D, Ranchère D, Shipley J, Zin A, Bergeron C, de Salvo GL, Chisholm J, Ferrari A, Jenney M, Mandeville HC, Rogers T, Merks JHM, Mudry P, Glosli H, Milano GM, Ferman S, Bisogno G, European Paediatric Soft Tissue Sarcoma Study Group (EpSSG) (2018)
   Fusion status in patients with lymph node-positive (N1) alveolar rhabdomyosarcoma is a powerful predictor of prognosis: Experience of the European Paediatric Soft Tissue Sarcoma Study Group (EpSSG)
   Cancer, 124 (15), 3201-3209
   DOI 10.1002/cncr.31553, PubMed 29797665
5. Iversen K, Drivdal LM, Billaud Feragen KJ, Geirdal AØ (2018)
   Quality of life in adults with lymphedema cholestasis syndrome 1
   Health Qual Life Outcomes, 16 (1), 146
   DOI 10.1186/s12955-018-0972-1, PubMed 30045736
6. Solberg OK, Filkuková P, Frich JC, Feragen KJB (2018)
   Age at Death and Causes of Death in Patients with Huntington Disease in Norway in 1986-2015
   J Huntingtons Dis, 7 (1), 77-86
   DOI 10.3233/JHD-170270, PubMed 29480207
7. Wilhelmsson M, Glosli H, Ifversen M, Abrahamsson J, Winiarski J, Jahnukainen K, Hasle H, Nordic Society of Pediatric Hematology and Oncology (NOPHO) (2018)
   Long-term health outcomes in survivors of childhood AML treated with allogeneic HSCT: a NOPHO-AML Study
   Bone Marrow Transplant, 54 (5), 726-736
   DOI 10.1038/s41409-018-0337-8, PubMed 30242226

Publications 2017

1. Ngcungcu T, Oti M, Sitek JC, Haukanes BI, Linghu B, Bruccoleri R, Stokowy T, Oakeley EJ, Yang F, Zhu J, Sultan M, Schalkwijk J, van Vlijmen-Willems IMJJ, von der Lippe C, Brunner HG, Ersland KM, Grayson W, Buechmann-Moller S, Sundnes O, Nirmala N, Morgan TM, van Bokhoven H, Steen VM, Hull PR, Szustakowski J et al. (2017)
   Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families
   Am J Hum Genet, 100 (5), 737-750
   DOI 10.1016/j.ajhg.2017.03.012, PubMed 28457472
2. von der Lippe C, Diesen PS, Feragen KB (2017)
   Living with a rare disorder: a systematic review of the qualitative literature
   Mol Genet Genomic Med, 5 (6), 758-773
   DOI 10.1002/mgg3.315, PubMed 29178638
3. von der Lippe C, Frich JC, Harris A, Solbrække KN (2017)
   "It was a lot Tougher than I Thought It would be". A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier
   J Genet Couns, 26 (6), 1324-1332
   DOI 10.1007/s10897-017-0112-9, PubMed 28547664
4. Vaarwerk B, van der Lee JH, Breunis WB, Orbach D, Chisholm JC, Cozic N, Jenney M, van Rijn RR, McHugh K, Gallego S, Glosli H, Devalck C, Gaze MN, Kelsey A, Bergeron C, Stevens MCG, Oberlin O, Minard-Colin V, Merks JHM (2017)
   Prognostic relevance of early radiologic response to induction chemotherapy in pediatric rhabdomyosarcoma: A report from the International Society of Pediatric Oncology Malignant Mesenchymal Tumor 95 study
   Cancer, 124 (5), 1016-1024
   DOI 10.1002/cncr.31157, PubMed 29211298
5. Zeller B, Glosli H, Forestier E, Ha SY, Jahnukainen K, Jónsson ÓG, Lausen B, Palle J, Hasle H, Abrahamsson J, NOPHO AML working group (2017)
   Hyperleucocytosis in paediatric acute myeloid leukaemia - the challenge of white blood cell counts above 200 × 10⁹ /l. The NOPHO experience 1984-2014
   Br J Haematol, 178 (3), 448-456
   DOI 10.1111/bjh.14692, PubMed 28542715

Publications 2016

1. Ferrari A, Trama A, De Paoli A, Bergeron C, Merks JHM, Jenney M, Orbach D, Chisholm JC, Gallego S, Glosli H, De Salvo GL, Botta L, Gatta G, Bisogno G, RARECAREnet Working Group (2016)
   Access to clinical trials for adolescents with soft tissue sarcomas: Enrollment in European pediatric Soft tissue sarcoma Study Group (EpSSG) protocols
   Pediatr Blood Cancer, 64 (6)
   DOI 10.1002/pbc.26348, PubMed 27882658
2. Przybyl L, Haase N, Golic M, Rugor J, Solano ME, Arck PC, Gauster M, Huppertz B, Emontzpohl C, Stoppe C, Bernhagen J, Leng L, Bucala R, Schulz H, Heuser A, Weedon-Fekjær MS, Johnsen GM, Peetz D, Luft FC, Staff AC, Müller DN, Dechend R, Herse F (2016)
   CD74-Downregulation of Placental Macrophage-Trophoblastic Interactions in Preeclampsia
   Circ Res, 119 (1), 55-68
   DOI 10.1161/CIRCRESAHA.116.308304, PubMed 27199465
3. von der Lippe C, Frich JC, Harris A, Solbraekke KN (2016)
   Treatment of hemophilia: A qualitative study of mothers' perspectives
   Pediatr Blood Cancer, 64 (1), 121-127
   DOI 10.1002/pbc.26167, PubMed 27472376
4. von der Lippe C, Frich JC, Harris A, Solbrække KN (2016)
   Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study
   J Genet Couns, 25 (5), 1085-92
   DOI 10.1007/s10897-016-9941-1, PubMed 26948256

Publications 2015

1. Jarfelt M, Andersen NH, Glosli H, Jahnukainen K, Jónmundsson GK, Malmros J, Nysom K, Hasle H, Nordic Society of Pediatric Hematology and Oncology (NOPHO) (2015)
   Cardiac function in survivors of childhood acute myeloid leukemia treated with chemotherapy only: a NOPHO-AML study
   Eur J Haematol, 97 (1), 55-62
   DOI 10.1111/ejh.12683, PubMed 26383901
2. Rustad C, Bjørndalen H, Myhre AG, Heier CA, Horn J, Knaus A, Hvid I, Merckoll E, Tveiterås M, Westvik J (2015)
   [Re: Special outpatient clinic for skeletal dysplasias]
   Tidsskr Nor Laegeforen, 135 (8), 736
   DOI 10.4045/tidsskr.15.0440, PubMed 25947586

Publications 2014

1. Skou AS, Glosli H, Jahnukainen K, Jarfelt M, Jónmundsson GK, Malmros-Svennilson J, Nysom K, Hasle H, Nordic Society of Pediatric Hematology and Oncology (2014)
   Renal, gastrointestinal, and hepatic late effects in survivors of childhood acute myeloid leukemia treated with chemotherapy only--a NOPHO-AML study
   Pediatr Blood Cancer, 61 (9), 1638-43
   DOI 10.1002/pbc.25069, PubMed 24760750

Publications 2013

1. Holwerda K, Weedon-Fekjær S, Staff A, Nolte I, Goor H, Lely T, Faas M (2013)
   PP013. Single nucleotide polymorphisms of the maternal cystathionine-b-synthase gene are associated with preeclampsia (PE)
   Pregnancy Hypertens, 3 (2), 72
   DOI 10.1016/j.preghy.2013.04.041, PubMed 26105871
2. Molgaard-Hansen L, Skou AS, Juul A, Glosli H, Jahnukainen K, Jarfelt M, Jónmundsson GK, Malmros J, Nysom K, Hasle H, Nordic Society of Pediatric Hematology and Oncology (2013)
   Pubertal development and fertility in survivors of childhood acute myeloid leukemia treated with chemotherapy only: a NOPHO-AML study
   Pediatr Blood Cancer, 60 (12), 1988-95
   DOI 10.1002/pbc.24715, PubMed 24038890
3. Weedon-Fekjær MS, Sheng Y, Herse F, Lyle R, Sugulle M, Dechend R, Staff AC (2013)
   OP008. Different dysregulation of placental mirnas in early- and late-onset preeclampsia
   Pregnancy Hypertens, 3 (2), 65
   DOI 10.1016/j.preghy.2013.04.024, PubMed 26105854
4. Åvitsland TL, Birketvedt K, Bjørnland K, Emblem R (2013)
   Parent-reported effects of gastrostomy tube placement
   Nutr Clin Pract, 28 (4), 493-8
   DOI 10.1177/0884533613486484, PubMed 23719337

Publications 2011

1. Molgaard-Hansen L, Möttönen M, Glosli H, Jónmundsson GK, Abrahamsson J, Hasle H, Nordic Society of Paediatric Haematology and Oncology (NOPHO) (2011)
   Treatment-related deaths in second complete remission in childhood acute myeloid leukaemia
   Br J Haematol, 152 (5), 623-30
   DOI 10.1111/j.1365-2141.2010.08554.x, PubMed 21241281

Publications 2010

1. Andelic N, Jerstad T, Sigurdardottir S, Schanke AK, Sandvik L, Roe C (2010)
   Effects of acute substance use and pre-injury substance abuse on traumatic brain injury severity in adults admitted to a trauma centre
   J Trauma Manag Outcomes, 4, 6
   DOI 10.1186/1752-2897-4-6, PubMed 20504353
2. Molgaard-Hansen L, Glosli H, Jahnukainen K, Jarfelt M, Jónmundsson GK, Malmros-Svennilson J, Nysom K, Hasle H, Nordic Society of Pediatric Hematology and Oncology (2010)
   Quality of health in survivors of childhood acute myeloid leukemia treated with chemotherapy only: a NOPHO-AML study
   Pediatr Blood Cancer, 57 (7), 1222-9
   DOI 10.1002/pbc.22931, PubMed 22095929
3. Molgaard-Hansen L, Möttönen M, Glosli H, Jónmundsson GK, Abrahamsson J, Hasle H, Nordic Society of Paediatric Haematology and Oncology (NOPHO) (2010)
   Early and treatment-related deaths in childhood acute myeloid leukaemia in the Nordic countries: 1984-2003
   Br J Haematol, 151 (5), 447-59
   DOI 10.1111/j.1365-2141.2010.08389.x, PubMed 20955398

Publications 2009

1. Molven A, Søvik O, von der Lippe C, Steine SJ, Njølstad PR, Houge G, Prescott TE (2009)
   [Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway]
   Tidsskr Nor Laegeforen, 129 (22), 2358-61
   DOI 10.4045/tidsskr.09.0267, PubMed 19935936

Publications 2008

1. Glosli H, Stray-Pedersen A, Brun AC, Holtmon LW, Tønjum T, Chapgier A, Casanova JL, Abrahamsen TG (2008)
   Infections due to various atypical mycobacteria in a Norwegian multiplex family with dominant interferon-gamma receptor deficiency
   Clin Infect Dis, 46 (3), e23-7
   DOI 10.1086/525855, PubMed 18171304
2. Lindemann R, Myhre MC, Bakken M, Fugelseth D, Rustad CF, Woldseth B (2008)
   [A newborn infant with hyperventilation]
   Tidsskr Nor Laegeforen, 128 (13), 1535-6
   PubMed 18604903

Publications 2000

1. Ulven SM, Gundersen TE, Weedon MS, Landaas VO, Sakhi AK, Fromm SH, Geronimo BA, Moskaug JO, Blomhoff R (2000)
   Identification of endogenous retinoids, enzymes, binding proteins, and receptors during early postimplantation development in mouse: important role of retinal dehydrogenase type 2 in synthesis of all-trans-retinoic acid
   Dev Biol, 220 (2), 379-91
   DOI 10.1006/dbio.2000.9634, PubMed 10753524

Publications 1992

1. Dahl-Jørgensen K, Glosli H, Joner G, Rønningen KS, Søvik O (1992)
   [Can type 1 diabetes be prevented?]
   Tidsskr Nor Laegeforen, 112 (23), 2951-2
   PubMed 1412340