Works matching IS 03406717 AND DT 2011 AND VI 129 AND IP 4
Results: 12
Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice.
- Published in:
- Human Genetics, 2011, v. 129, n. 4, p. 371, doi. 10.1007/s00439-010-0931-3
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- Publication type:
- Article
DFNB89 , a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.
- Published in:
- Human Genetics, 2011, v. 129, n. 4, p. 379, doi. 10.1007/s00439-010-0934-0
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- Article
Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.
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- Human Genetics, 2011, v. 129, n. 4, p. 387, doi. 10.1007/s00439-010-0933-1
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- Publication type:
- Article
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.
- Published in:
- Human Genetics, 2011, v. 129, n. 4, p. 397, doi. 10.1007/s00439-010-0930-4
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- Publication type:
- Article
Natural selection at genomic regions associated with obesity and type-2 diabetes: East Asians and sub-Saharan Africans exhibit high levels of differentiation at type-2 diabetes regions.
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- Human Genetics, 2011, v. 129, n. 4, p. 407, doi. 10.1007/s00439-010-0935-z
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- Article
Distribution of the number of false discoveries in large-scale family-based association testing with application to the association between PTPN1 and hypertension and obesity.
- Published in:
- Human Genetics, 2011, v. 129, n. 4, p. 425, doi. 10.1007/s00439-010-0936-y
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- Publication type:
- Article
Novel mutations in the keratin-74 ( KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.
- Published in:
- Human Genetics, 2011, v. 129, n. 4, p. 419, doi. 10.1007/s00439-010-0938-9
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- Publication type:
- Article
Characterization of the ZBTB42 gene in humans and mice.
- Published in:
- Human Genetics, 2011, v. 129, n. 4, p. 433, doi. 10.1007/s00439-010-0940-2
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- Publication type:
- Article
Model-based prediction of human hair color using DNA variants.
- Published in:
- Human Genetics, 2011, v. 129, n. 4, p. 443, doi. 10.1007/s00439-010-0939-8
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- Publication type:
- Article
Revisiting Mendelian disorders through exome sequencing.
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- Human Genetics, 2011, v. 129, n. 4, p. 351, doi. 10.1007/s00439-011-0964-2
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- Publication type:
- Article
Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients.
- Published in:
- Human Genetics, 2011, v. 129, n. 4, p. 455, doi. 10.1007/s00439-010-0941-1
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- Publication type:
- Article
The immortal life of Henrietta Lacks.
- Published in:
- 2011
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- Publication type:
- Book Review