Works matching IS 14345161 AND DT 2015 AND VI 60 AND IP 3
Results: 12
Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27.
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- Journal of Human Genetics, 2015, v. 60, n. 3, p. 151, doi. 10.1038/jhg.2014.112
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- Article
A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in three Korean populations.
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- Journal of Human Genetics, 2015, v. 60, n. 3, p. 113, doi. 10.1038/jhg.2014.108
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- Article
Identification of FAM13A gene associated with the ratio of FEV<sub>1</sub> to FVC in Korean population by genome-wide association studies including gene-environment interactions.
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- Journal of Human Genetics, 2015, v. 60, n. 3, p. 139, doi. 10.1038/jhg.2014.118
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Chinese homozygous Machado-Joseph disease (MJD)/SCA3: a case report.
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- Journal of Human Genetics, 2015, v. 60, n. 3, p. 157, doi. 10.1038/jhg.2014.117
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PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure.
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- Journal of Human Genetics, 2015, v. 60, n. 3, p. 147, doi. 10.1038/jhg.2014.107
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Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.
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- Journal of Human Genetics, 2015, v. 60, n. 3, p. 165, doi. 10.1038/jhg.2014.113
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Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations.
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- Journal of Human Genetics, 2015, v. 60, n. 3, p. 133, doi. 10.1038/jhg.2014.116
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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.
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- Journal of Human Genetics, 2015, v. 60, n. 3, p. 163, doi. 10.1038/jhg.2014.119
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A message for 2015.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 3, p. 109, doi. 10.1038/jhg.2015.9
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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.
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- Journal of Human Genetics, 2015, v. 60, n. 3, p. 161, doi. 10.1038/jhg.2014.120
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- Article
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.
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- Journal of Human Genetics, 2015, v. 60, n. 3, p. 119, doi. 10.1038/jhg.2014.114
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- Article
Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification.
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- Journal of Human Genetics, 2015, v. 60, n. 3, p. 127, doi. 10.1038/jhg.2014.115
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- Article