journal of human genetics سال:2017 - دوره:62

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journal of human genetics
سال:2017 - دوره:62 - شماره:4

Association of a single nucleotide polymorphism upstream of ICOS with Japanese autoimmune hepatitis type 1 - صفحه:481-484 Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations - صفحه:503-506 Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy - صفحه:459-463 Comprehensive genotyping in dyslipidemia: mendelian dyslipidemias caused by rare variants and Mendelian randomization studies using common variants - صفحه:453-458 Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens–Johnson syndrome with severe ocular complications - صفحه:485-489 Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails - صفحه:465-471 Norrbottnian clinical variant of Gaucher disease in Southern Italy - صفحه:507-511 Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases - صفحه:513-516 Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects - صفحه:497-501 TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy - صفحه:473-480 Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental caries - صفحه:491-496