Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 12
Results: 14
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1218, doi. 10.1038/ejhg.2011.128
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- Article
CGene: an R package for implementation of causal genetic analyses.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1292, doi. 10.1038/ejhg.2011.122
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- Article
A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1289, doi. 10.1038/ejhg.2011.130
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- Article
2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1264, doi. 10.1038/ejhg.2011.112
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- Article
iPS cells to model CDKL5-related disorders.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1246, doi. 10.1038/ejhg.2011.131
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- Article
Motivators for participation in a whole-genome sequencing study: implications for translational genomics research.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1213, doi. 10.1038/ejhg.2011.123
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- Article
The potential influence of KIR cluster profiles on disease patterns of Canadian Aboriginals and other indigenous peoples of the Americas.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1276, doi. 10.1038/ejhg.2011.114
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- Article
Renal coloboma syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1207, doi. 10.1038/ejhg.2011.102
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- Article
Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1281, doi. 10.1038/ejhg.2011.129
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- Article
Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1230, doi. 10.1038/ejhg.2011.119
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- Article
Characterization of autosomal copy-number variation in African Americans: the HyperGEN Study.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1271, doi. 10.1038/ejhg.2011.115
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- Article
Maternally inherited mitochondrial DNA disease in consanguineous families.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1226, doi. 10.1038/ejhg.2011.124
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- Article
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1238, doi. 10.1038/ejhg.2011.121
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- Article
Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1256, doi. 10.1038/ejhg.2011.133
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- Article