journal of human genetics سال:2016 - دوره:61

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journal of human genetics
سال:2016 - دوره:61 - شماره:3

A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets - صفحه:223-227 A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family - صفحه:271-273 APOBEC3H polymorphisms and susceptibility to HIV-1 infection in an Indian population - صفحه:263-265 An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis - صفحه:253-261 An epigenomic signature of postprandial hyperglycemia in peripheral blood leukocytes - صفحه:241-246 Birth weight modifies the association between central nervous system gene variation and adult body mass index - صفحه:193-198 Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features - صفحه:229-233 Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients - صفحه:235-239 Coevolution of genes and languages and high levels of population structure among the highland populations of Daghestan - صفحه:181-191 Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families - صفحه:207-213 Noninvasive fetal trisomy detection by multiplexed semiconductor sequencing: a barcoding analysis strategy - صفحه:247-252 Six-layer structure for genomics and its applications - صفحه:267-270 Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent - صفحه:215-222 Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder - صفحه:199-206