Works matching IS 03406717 AND DT 2001 AND VI 109 AND IP 5
Results: 14
Genetic case-control association studies – correcting for multiple testing.
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- Human Genetics, 2001, v. 109, n. 5, p. 564, doi. 10.1007/s00439-001-0611-4
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Insulator: from chromatin domain boundary to gene regulation.
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- Human Genetics, 2001, v. 109, n. 5, p. 471, doi. 10.1007/s004390100601
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A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome: creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon.
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- Human Genetics, 2001, v. 109, n. 5, p. 559, doi. 10.1007/s00439-001-0612-3
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Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene.
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- Human Genetics, 2001, v. 109, n. 5, p. 512, doi. 10.1007/s00439-001-0608-z
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Correcting for multiple testing in genetic association studies: the legend lives on.
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- Human Genetics, 2001, v. 109, n. 5, p. 566, doi. 10.1007/s00439-001-0616-z
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Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.
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- Human Genetics, 2001, v. 109, n. 5, p. 551, doi. 10.1007/s00439-001-0609-y
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Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
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- Human Genetics, 2001, v. 109, n. 5, p. 503, doi. 10.1007/s004390100606
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A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.
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- Human Genetics, 2001, v. 109, n. 5, p. 498, doi. 10.1007/s004390100600
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Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
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- Human Genetics, 2001, v. 109, n. 5, p. 535, doi. 10.1007/s004390100604
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Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
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- Human Genetics, 2001, v. 109, n. 5, p. 526, doi. 10.1007/s004390100603
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Genomic structure of karyopherin α2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome.
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- Human Genetics, 2001, v. 109, n. 5, p. 479, doi. 10.1007/s004390100605
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Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene.
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- Human Genetics, 2001, v. 109, n. 5, p. 487, doi. 10.1007/s004390100594
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Identification and characterization of two novel human mitochondrial elongation factor genes, hEFG2 and hEFG1, phylogenetically conserved through evolution.
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- Human Genetics, 2001, v. 109, n. 5, p. 542, doi. 10.1007/s00439-001-0610-5
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Association of the mitochondrial DNA 5178 A/C polymorphism with serum lipid levels in the Japanese population.
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- Human Genetics, 2001, v. 109, n. 5, p. 521, doi. 10.1007/s004390100602
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- Article