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journal of human genetics
سال:2015 - دوره:60 - شماره:6
A novel de novo 20q13.32–q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass
- صفحه:313-317
A novel mutation in EED associated with overgrowth
- صفحه:339-342
A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing
- صفحه:299-304
A splicing mutation of the HMGA2 gene is associated with Silver–Russell syndrome phenotype
- صفحه:287-293
Erratum: Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells
- صفحه:345-345
Japan PGx Data Science Consortium Database: SNPs and HLA genotype data from 2994 Japanese healthy individuals for pharmacogenomics studies
- صفحه:319-326
New splicing mutation in the choline kinase beta ( CHKB ) gene causing a muscular dystrophy detected by whole-exome sequencing
- صفحه:305-312
No support for replication of the genetic variants identified by a recent mega-analysis of the treatment response to antidepressants
- صفحه:343-344
Older individuals heterozygous for a growth hormone-releasing hormone receptor gene mutation are shorter than normal subjects
- صفحه:335-338
Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA
- صفحه:327-333
Y chromosome of Aisin Gioro, the imperial house of the Qing dynasty
- صفحه:295-298
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