journal of human genetics سال:2017 - دوره:62

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journal of human genetics
سال:2017 - دوره:62 - شماره:6

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome - صفحه:653-655 Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1 - صفحه:661-663 Clinical diversity caused by novel IGHMBP2 variants - صفحه:599-604 GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function - صفحه:589-597 Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor - صفحه:641-646 Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors - صفحه:615-620 Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data: application to ancient remains from the Moon Pyramid, Mexico - صفحه:631-635 Including non-informative parents in transmission-based association tests - صفحه:621-629 Mosaic chromosome Y loss and testicular germ cell tumor risk - صفحه:637-640 Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia - صفحه:647-651 Prevalence of four Mendelian disorders associated with autism in 2392 affected families - صفحه:657-659 Subdivisions of haplogroups U and C encompass mitochondrial DNA lineages of Eneolithic–Early Bronze Age Kurgan populations of western North Pontic steppe - صفحه:605-613