Works matching IS 03406717 AND DT 2014 AND VI 133 AND IP 11
Results: 10
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
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- Human Genetics, 2014, v. 133, n. 11, p. 1359, doi. 10.1007/s00439-014-1469-6
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- Article
Genetic polymorphisms associated with rubella virus-specific cellular immunity following MMR vaccination.
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- Human Genetics, 2014, v. 133, n. 11, p. 1407, doi. 10.1007/s00439-014-1471-z
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Using familial information for variant filtering in high-throughput sequencing studies.
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- Human Genetics, 2014, v. 133, n. 11, p. 1331, doi. 10.1007/s00439-014-1479-4
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- Article
Differentially co-expressed genes in postmortem prefrontal cortex of individuals with alcohol use disorders: influence on alcohol metabolism-related pathways.
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- Human Genetics, 2014, v. 133, n. 11, p. 1383, doi. 10.1007/s00439-014-1473-x
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- Article
Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder.
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- Human Genetics, 2014, v. 133, n. 11, p. 1443, doi. 10.1007/s00439-014-1474-9
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- Article
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
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- Human Genetics, 2014, v. 133, n. 11, p. 1419, doi. 10.1007/s00439-014-1475-8
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- Article
Common genetic variation in and near the melanocortin 4 receptor gene ( MC4R) is associated with body mass index in American Indian adults and children.
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- Human Genetics, 2014, v. 133, n. 11, p. 1431, doi. 10.1007/s00439-014-1477-6
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- Article
Common vitamin D pathway gene variants reveal contrasting effects on serum vitamin D levels in African Americans and European Americans.
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- Human Genetics, 2014, v. 133, n. 11, p. 1395, doi. 10.1007/s00439-014-1472-y
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- Article
Practical aspects of genome-wide association interaction analysis.
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- Human Genetics, 2014, v. 133, n. 11, p. 1343, doi. 10.1007/s00439-014-1480-y
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- Article
Improving the power of genetic association tests with imperfect phenotype derived from electronic medical records.
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- Human Genetics, 2014, v. 133, n. 11, p. 1369, doi. 10.1007/s00439-014-1466-9
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- Article