Works matching IS 14345161 AND DT 2008 AND VI 53 AND IP 11/12
Results: 11
An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease.
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- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 1007, doi. 10.1007/s10038-008-0334-7
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- Article
Genetic variants of FOXA2: risk of type 2 diabetes and effect on metabolic traits in North Indians.
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- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 957, doi. 10.1007/s10038-008-0335-6
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LRRK2 P755L variant in sporadic Parkinson’s disease.
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- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 1012, doi. 10.1007/s10038-008-0336-5
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- Article
Molecular basis of complement factor I (CFI) polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific.
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- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 1016, doi. 10.1007/s10038-008-0337-4
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- Article
Association of the SLC45A2 gene with physiological human hair colour variation.
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- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 966, doi. 10.1007/s10038-008-0338-3
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Common coding variant in the TCF7L2 gene and study of the association with type 2 diabetes in Japanese subjects.
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- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 972, doi. 10.1007/s10038-008-0339-2
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Nonparametric estimation of LOH using Affymetrix SNP genotyping arrays for unpaired samples.
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- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 983, doi. 10.1007/s10038-008-0340-9
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Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population.
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- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 991, doi. 10.1007/s10038-008-0341-8
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Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population.
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- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 1022, doi. 10.1007/s10038-008-0342-7
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PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome.
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- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 999, doi. 10.1007/s10038-008-0343-6
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Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy.
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- Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 1029, doi. 10.1007/s10038-008-0344-5
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- Article