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journal of human genetics
سال:2016 - دوره:61 - شماره:11
A replication study of a candidate locus for follicle-stimulating hormone levels and association analysis for semen quality traits in Japanese men
- صفحه:911-915
Block-based association tests for rare variants using Kullback–Leibler divergence
- صفحه:965-975
HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families
- صفحه:959-963
Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases
- صفحه:951-958
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes
- صفحه:923-929
PAX4 R192H and P321H polymorphisms in type 2 diabetes and their functional defects
- صفحه:943-949
SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans
- صفحه:917-922
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders
- صفحه:931-942
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