Works matching IS 10597794 AND DT 2004 AND VI 23 AND IP 4
Results: 25
Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye.
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- Human Mutation, 2004, v. 23, n. 4, p. 368, doi. 10.1002/humu.20011
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Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.
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- Human Mutation, 2004, v. 23, n. 4, p. 399, doi. 10.1002/humu.9230
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Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
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- Human Mutation, 2004, v. 23, n. 4, p. 396, doi. 10.1002/humu.9223
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Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer.
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- Human Mutation, 2004, v. 23, n. 4, p. 318, doi. 10.1002/humu.20015
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Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method.
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- Human Mutation, 2004, v. 23, n. 4, p. 379, doi. 10.1002/humu.20008
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Wilson disease: Novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
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- Human Mutation, 2004, v. 23, n. 4, p. 398, doi. 10.1002/humu.9227
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Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
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- Human Mutation, 2004, v. 23, n. 4, p. 306, doi. 10.1002/humu.20010
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Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: Further evidence that collagen X NC1 mutations impair trimer assembly.
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- Human Mutation, 2004, v. 23, n. 4, p. 396, doi. 10.1002/humu.9222
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Genetically heterogeneous selective intestinal malabsorption of vitamin B<sub>12</sub>: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.
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- Human Mutation, 2004, v. 23, n. 4, p. 327, doi. 10.1002/humu.20014
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Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR.
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- Human Mutation, 2004, v. 23, n. 4, p. 385, doi. 10.1002/humu.20007
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BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic.
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- Human Mutation, 2004, v. 23, n. 4, p. 397, doi. 10.1002/humu.9226
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Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
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- Human Mutation, 2004, v. 23, n. 4, p. 300, doi. 10.1002/humu.20018
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Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.
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- Human Mutation, 2004, v. 23, n. 4, p. 395, doi. 10.1002/humu.20042
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Importance of standard nomenclature for SMN1 small intragenic ('subtle') mutations.
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- Human Mutation, 2004, v. 23, n. 4, p. 392, doi. 10.1002/humu.20013
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HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis.
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- Human Mutation, 2004, v. 23, n. 4, p. 400, doi. 10.1002/humu.9232
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Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
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- Human Mutation, 2004, v. 23, n. 4, p. 397, doi. 10.1002/humu.9225
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Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
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- Human Mutation, 2004, v. 23, n. 4, p. 289, doi. 10.1002/humu.20017
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The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at the MEFV locus.
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- Human Mutation, 2004, v. 23, n. 4, p. 399, doi. 10.1002/humu.9229
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Bridging structural biology and genetics by computational methods: An investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome.
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- Human Mutation, 2004, v. 23, n. 4, p. 394, doi. 10.1002/humu.20041
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Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to β-amyloid metabolism.
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- Human Mutation, 2004, v. 23, n. 4, p. 358, doi. 10.1002/humu.20012
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CYLD mutation causes multiple familial trichoepithelioma in three Chinese families.
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- Human Mutation, 2004, v. 23, n. 4, p. 400, doi. 10.1002/humu.9231
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Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.
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- Human Mutation, 2004, v. 23, n. 4, p. 397, doi. 10.1002/humu.9224
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Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Aβ42 levels and risk for Alzheimer disease.
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- Human Mutation, 2004, v. 23, n. 4, p. 334, doi. 10.1002/humu.20016
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Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms.
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- Human Mutation, 2004, v. 23, n. 4, p. 343, doi. 10.1002/humu.20009
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Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA).
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- Human Mutation, 2004, v. 23, n. 4, p. 398, doi. 10.1002/humu.9228
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