Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 1
Results: 15
Mutations in the C7orf11 ( TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
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- Human Mutation, 2007, v. 28, n. 1, p. 92, doi. 10.1002/humu.20419
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Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.
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- Human Mutation, 2007, v. 28, n. 1, p. 54, doi. 10.1002/humu.20403
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Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism.
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- Human Mutation, 2007, v. 28, n. 1, p. 27, doi. 10.1002/humu.20436
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Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.
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- Human Mutation, 2007, v. 28, n. 1, p. 98, doi. 10.1002/humu.9472
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Sub-populations within the major European and African derived haplogroups R1b3 and E3a are differentiated by previously phylogenetically undefined Y-SNPs.
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- Human Mutation, 2007, v. 28, n. 1, p. 97, doi. 10.1002/humu.9469
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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
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- Human Mutation, 2007, v. 28, n. 1, p. 81, doi. 10.1002/humu.20417
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Microsatellite in the 3′ untranslated region of human fibroblast growth factor 9 (FGF9) gene exhibits pleiotropic effect on modulating FGF9 protein expression.
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- Human Mutation, 2007, v. 28, n. 1, p. 98, doi. 10.1002/humu.9471
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Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.
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- Human Mutation, 2007, v. 28, n. 1, p. 41, doi. 10.1002/humu.20401
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Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.
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- Human Mutation, 2007, v. 28, n. 1, p. 33, doi. 10.1002/humu.20371
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Somatic microindels: analysis in mouse soma and comparison with the human germline.
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- Human Mutation, 2007, v. 28, n. 1, p. 69, doi. 10.1002/humu.20416
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Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.
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- Human Mutation, 2007, v. 28, n. 1, p. 1, doi. 10.1002/humu.20393
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Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.
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- Human Mutation, 2007, v. 28, n. 1, p. 61, doi. 10.1002/humu.20409
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The Italian XLMR bank: a clinical and molecular database.
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- Human Mutation, 2007, v. 28, n. 1, p. 13, doi. 10.1002/humu.20411
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Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
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- Human Mutation, 2007, v. 28, n. 1, p. 19, doi. 10.1002/humu.20433
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Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
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- Human Mutation, 2007, v. 28, n. 1, p. 97, doi. 10.1002/humu.9470
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- Article