journal of human genetics سال:2016 - دوره:61

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journal of human genetics
سال:2016 - دوره:61 - شماره:9

A commentary on de novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux - صفحه:773-774 A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population - صفحه:793-796 Additive composite ABCG2 , SLC2A9 and SLC22A12 scores of high-risk alleles with alcohol use modulate gout risk - صفحه:803-810 Androgen receptor CAG polymorphism and sporadic and early-onset prostate cancer among Mexican men - صفحه:781-786 De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux - صفحه:835-838 EED -associated overgrowth in a second male patient - صفحه:831-834 Erratum: Corrigendum: The paternal ancestry of Uttarakhand does not imitate the classical caste system of India - صفحه:843-843 Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis - صفحه:811-821 Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis - صفحه:775-780 Genotyping NUDT15 can predict the dose reduction of 6-MP for children with acute lymphoblastic leukemia especially at a preschool age - صفحه:797-801 Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism - صفحه:839-842 Survey of motivation to participate in a birth cohort - صفحه:787-791 Transcript, methylation and molecular docking analyses of the effects of HDAC inhibitors, SAHA and Dacinostat, on SMN2 expression in fibroblasts of SMA patients - صفحه:823-830