journal of human genetics سال:2016 - دوره:61

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journal of human genetics
سال:2016 - دوره:61 - شماره:2

A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract - صفحه:177-179 Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis - صفحه:137-141 Ancient mitochondrial genome reveals trace of prehistoric migration in the east Pamir by pastoralists - صفحه:103-108 Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease - صفحه:163-166 Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal - صفحه:151-156 Comparison of genetic variation in drug ADME-related genes in Thais with Caucasian, African and Asian HapMap populations - صفحه:119-127 Diagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern - صفحه:173-175 Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease - صفحه:157-162 Genetic variations in vitamin D receptor were associated with the outcomes of hepatitis C virus infection among Chinese population - صفحه:129-135 Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region - صفحه:87-94 MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability - صفحه:95-101 The paternal ancestry of Uttarakhand does not imitate the classical caste system of India - صفحه:167-172 Tumor-suppressive microRNAs ( miR-26a/b , miR-29a/b/c and miR-218 ) concertedly suppressed metastasis-promoting LOXL2 in head and neck squamous cell carcinoma - صفحه:109-118 Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease - صفحه:143-149