journal of human genetics سال:2016 - دوره:61

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journal of human genetics
سال:2016 - دوره:61 - شماره:10

Detecting multiple variants associated with disease based on sequencing data of case–parent trios - صفحه:851-860 Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data set - صفحه:861-866 Evaluation of polygenic risks for narcolepsy and essential hypersomnia - صفحه:873-878 Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with ‘non-syndromic’ pre-axial polydactyly - صفحه:907-910 Haplotype diversity in mitochondrial genome in a Chinese Han population - صفحه:903-906 Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements - صفحه:891-897 Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability - صفحه:867-872 Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan - صفحه:879-884 SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia - صفحه:845-850 The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations - صفحه:899-902 Two genetic variants in telomerase-associated protein 1 are associated with stomach cancer risk - صفحه:885-889