journal of human genetics سال:2015 - دوره:60

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journal of human genetics
سال:2015 - دوره:60 - شماره:3

A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness - صفحه:161-162 A message for 2015 - صفحه:109-111 A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in three Korean populations - صفحه:113-118 A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness - صفحه:163-164 Chinese homozygous Machado–Joseph disease (MJD)/SCA3: a case report - صفحه:157-160 Chromosome abnormalities diagnosed in utero : a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations - صفحه:133-137 Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification - صفحه:127-131 Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27 - صفحه:151-155 Erratum: Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome - صفحه:165-165 Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family - صفحه:119-126 Identification of FAM13A gene associated with the ratio of FEV 1 to FVC in Korean population by genome-wide association studies including gene–environment interactions - صفحه:139-145 PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure - صفحه:147-150