journal of human genetics سال:2016 - دوره:61

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journal of human genetics
سال:2016 - دوره:61 - شماره:4

A novel de novo POGZ mutation in a patient with intellectual disability - صفحه:357-359 A novel polymorphism near HLA class II region is associated with spontaneous clearance of HCV and response to interferon treatment in Chinese patients - صفحه:301-305 Association of common variants in TOMM40/APOE/APOC1 region with human longevity in a Chinese population - صفحه:323-328 Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China - صفحه:345-349 Erratum: Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses - صفحه:363-364 First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family - صفحه:295-300 Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability - صفحه:283-293 Gene–environment interactions in obesity: implication for future applications in preventive medicine - صفحه:317-322 Global trends on fears and concerns of genetic discrimination: a systematic literature review - صفحه:275-282 Individual risk alleles of susceptibility to schizophrenia are associated with poor clinical and social outcomes - صفحه:329-334 Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother - صفحه:351-355 SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements - صفحه:335-343 The African −387 C>T TGFB1 variant is functional and associates with the ophthalmoplegic complication in juvenile myasthenia gravis - صفحه:307-316 UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation - صفحه:361-362