journal of human genetics سال:2017 - دوره:62

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journal of human genetics
سال:2017 - دوره:62 - شماره:9

A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome - صفحه:865-866 A missense variant, rs373863828-A (p.Arg457Gln), of CREBRF and body mass index in Oceanic populations - صفحه:847-849 A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate - صفحه:861-863 A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome - صفحه:867-867 Carrier frequency of Wilson’s disease in the Korean population: a DNA-based approach - صفحه:815-818 Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases - صفحه:809-814 Effect of genomics-related literacy on non-communicable diseases - صفحه:839-846 Erratum: Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome - صفحه:869-869 Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum - صفحه:803-808 Logistic Bayesian LASSO for genetic association analysis of data from complex sampling designs - صفحه:819-829 Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome - صفحه:851-855 SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia - صفحه:857-859 The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome - صفحه:831-838