Works matching IS 14345161 AND DT 2007 AND VI 52 AND IP 6
Results: 16
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 492, doi. 10.1007/s10038-007-0139-0
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- Article
A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 549, doi. 10.1007/s10038-007-0137-2
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- Article
Mutation identification and characterization of a Taiwanese patient with fucosidosis.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 553, doi. 10.1007/s10038-007-0136-3
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- Article
Gap junction coding genes and schizophrenia: a genetic association study.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 498, doi. 10.1007/s10038-007-0142-5
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- Article
Genetic determination in onset age of wrist fracture.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 481, doi. 10.1007/s10038-007-0141-6
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- Article
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 521, doi. 10.1007/s10038-007-0146-1
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Failure to confirm association between PDCD1 polymorphisms and rheumatoid arthritis in a Japanese population.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 557, doi. 10.1007/s10038-007-0145-2
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- Article
A syndactyly type IV locus maps to 7q36.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 561, doi. 10.1007/s10038-007-0150-5
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- Article
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 543, doi. 10.1007/s10038-007-0149-y
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- Article
Polymorphisms of glutathione S-transferase M1, T1 and P1 in patients with reflux esophagitis and Barrett’s esophagus.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 527, doi. 10.1007/s10038-007-0148-z
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- Article
The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 516, doi. 10.1007/s10038-007-0147-0
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Association of KIT gene polymorphisms with bone mineral density in postmenopausal Korean women.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 502, doi. 10.1007/s10038-007-0143-4
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- Article
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 510, doi. 10.1007/s10038-007-0144-3
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- Article
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 535, doi. 10.1007/s10038-007-0151-4
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- Article
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 565, doi. 10.1007/s10038-007-0152-3
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- Article
An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 485, doi. 10.1007/s10038-007-0138-1
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- Article