Latest publications
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome
Genes (Basel), 14 (11)
DOI 10.3390/genes14111985, PubMed 38002928
Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage
J Clin Lab Anal, 37 (21-22), e24983
DOI 10.1002/jcla.24983, PubMed 37950505
Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report
BMC Endocr Disord, 23 (1), 155
DOI 10.1186/s12902-023-01388-1, PubMed 37474955
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