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A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 34, doi. 10.1038/jhg.2010.132
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- Article
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype–phenotype correlation.
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- Journal of Human Genetics, 2006, v. 51, n. 5, p. 455, doi. 10.1007/s10038-006-0384-7
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- Article
Linkage and association of childhood asthma with the chromosome 12 genes.
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- Journal of Human Genetics, 2004, v. 49, n. 3, p. 115
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- Article
Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma.
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- Human Genetics, 2004, v. 115, n. 4, p. 295, doi. 10.1007/s00439-004-1157-z
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- Article
Rapid diagnosis of glycine encephalopathy by 13C‐glycine breath test.
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- Annals of Neurology, 2006, v. 59, n. 5, p. 862, doi. 10.1002/ana.20853
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- Article
Smith-Magenis Syndrome With West Syndrome in a 5-Year-Old Girl: A Long-Term Follow-Up Study.
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- Journal of Child Neurology, 2009, v. 24, n. 7, p. 868, doi. 10.1177/0883073808330186
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- Article
The GSTP1 Gene Is a Susceptibility Gene for Childhood Asthma and the GSTM1 Gene Is a Modifier of the GSTP1 Gene.
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- International Archives of Allergy & Immunology, 2007, v. 144, n. 4, p. 275, doi. 10.1159/000106316
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- Article