journal of human genetics سال:2017 - دوره:62

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journal of human genetics
سال:2017 - دوره:62 - شماره:5

A message for 2017 - صفحه:517-519 A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy - صفحه:539-547 A novel sequence variant in SFRP4 causing Pyle disease - صفحه:575-576 Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations - صفحه:553-559 Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS - صفحه:531-537 Detecting disease association with rare variants in case-parents studies - صفحه:549-552 Erratum: Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disability - صفحه:585-585 Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder - صفحه:587-587 New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation - صفحه:581-584 Novel KCNB1 mutation associated with non-syndromic intellectual disability - صفحه:569-573 PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder - صفحه:525-529 Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2 - صفحه:561-567 Single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing data - صفحه:577-580 The 2016 JHG Young Scientist Award - صفحه:521-521 To aggregate or not, that is the question. A commentary on single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing data - صفحه:523-523