journal of human genetics سال:2015 - دوره:60

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journal of human genetics
سال:2015 - دوره:60 - شماره:9

A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients - صفحه:547-552 Admixture mapping of genetic variants for uterine fibroids - صفحه:533-538 Awareness, attitudes and perspectives of direct-to-consumer genetic testing in Greece: a survey of potential consumers - صفحه:515-523 Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations - صفحه:539-545 Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency - صفحه:501-507 Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita - صفحه:509-513 Disease susceptibility genes shared by primary biliary cirrhosis and Crohn’s disease in the Japanese population - صفحه:525-531 Evaluation of PARKIN gene variants in West Bengal Parkinson’s disease patients - صفحه:485-492 Genetic analysis of common variants in the HDAC2 gene with schizophrenia susceptibility in Han Chinese - صفحه:479-484 Genome-wide signatures of male-mediated migration shaping the Indian gene pool - صفحه:493-499 Genotype–phenotype relationship in Japanese patients with congenital central hypoventilation syndrome - صفحه:473-477 Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants - صفحه:465-466 Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature - صفحه:553-556 Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites - صفحه:467-471 mtDNA diversity of the Zapotec in Mexico suggests a population decline long before the first contact with Europeans - صفحه:557-559