journal of human genetics سال:2016 - دوره:61

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journal of human genetics
سال:2016 - دوره:61 - شماره:5

A functional SNP in FLT1 increases risk of coronary artery disease in a Japanese population - صفحه:435-441 A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP - صفحه:395-403 De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures - صفحه:381-387 De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia - صفحه:451-455 Effect of obesity on the association between MYL2 (rs3782889) and high-density lipoprotein cholesterol among Korean men - صفحه:405-409 Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene - صفحه:463-466 Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing - صفحه:419-422 Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride - صفحه:427-433 Genome-wide association study reveals sex-specific selection signals against autosomal nucleotide variants - صفحه:423-426 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations - صفحه:373-379 Identification of a novel mutation confirms the implication of IFT172 ( BBS20) in Bardet–Biedl syndrome - صفحه:447-450 Investigation of associations between ten polymorphisms and the risk of coronary artery disease in Southern Han Chinese - صفحه:389-393 KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients - صفحه:365-371 Mosaic 13q14 deletions in peripheral leukocytes of non-hematologic cancer cases and healthy controls - صفحه:411-418 Tibial hemimelia associated with GLI3 truncation - صفحه:443-446 Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene - صفحه:457-461