
| Sigve Nakken | |
| Position: | Post.doc. |
| Phone: | |
| Email: | |
Author network for Sigve Nakken by COREMINE medical
Publications in press
Is the brain water channel aquaporin-4 a pathogenetic factor in idiopathic intracranial hypertension? Results from a combined clinical and genetic study in a Norwegian cohort
Acta Ophthalmol (in press)
PubMed 21914143
Publications 2012
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
Eur J Hum Genet, 20 (1), 58-63
PubMed 21712855
Publications 2010
Unstable DNA repair genes shaped by their own sequence modifying phenotypes
J Mol Evol, 70 (3), 266-74
PubMed 20213140
Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy
Epilepsy Res, 88 (1), 55-64
PubMed 19864112
Impact of DNA physical properties on local sequence bias of human mutation
Hum Mutat, 31 (12), 1316-25
PubMed 20886615
Publications 2009
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
Mol Genet Metab, 96 (4), 245-52
PubMed 19208450
ABCB4 sequence variations in young adults with cholesterol gallstone disease
Liver Int, 29 (5), 743-7
PubMed 19018976
UniquePrimer - a web utility for design of specific PCR primers and probes
Ann. Microbiol., 59 (2), 391-393
The disruptive positions in human G-quadruplex motifs are less polymorphic and more conserved than their neutral counterparts
Nucleic Acids Res, 37 (17), 5749-56
PubMed 19617376
Large-scale inference of the point mutational spectrum in human segmental duplications
BMC Genomics, 10, 43
PubMed 19161616
Publications 2007
Computational prediction of the effects of non-synonymous single nucleotide polymorphisms in human DNA repair genes
Neuroscience, 145 (4), 1273-9
PubMed 17055652




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