journal of human genetics سال:2015 - دوره:60

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journal of human genetics
سال:2015 - دوره:60 - شماره:10

Association of common variants in H2AFZ gene with schizophrenia and cognitive function in patients with schizophrenia - صفحه:619-624 Calcification of joints and arteries: second report with novel NT5E mutations and expansion of the phenotype - صفحه:561-564 Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population - صفحه:613-617 Erratum: FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion - صفحه:653-654 Erratum: The diagnostic utility of exome sequencing in Joubert syndrome and related disorders - صفحه:651-651 Frequent genomic rearrangements of BRCA1 associated protein-1 ( BAP1 ) gene in Japanese malignant mesothelioma—characterization of deletions at exon level - صفحه:647-649 GIGYF2 mutation in late-onset Parkinson’s disease with cognitive impairment - صفحه:637-640 Genetic mutations in human rectal cancers detected by targeted sequencing - صفحه:589-596 Genome-wide association study of IgA nephropathy using 23 465 microsatellite markers in a Japanese population - صفحه:573-580 Germline mutations causing familial lung cancer - صفحه:597-603 Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals - صفحه:581-587 Novel compound heterozygous LIAS mutations cause glycine encephalopathy - صفحه:631-635 Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations - صفحه:641-645 Spina bifida in fetus is associated with an altered pattern of DNA methylation in placenta - صفحه:605-611 Unique characteristics of the Ainu population in Northern Japan - صفحه:565-571 Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population - صفحه:625-630