Works matching IS 03406717 AND DT 2000 AND VI 107 AND IP 6
Results: 15
Association of the TNF-α-308 (G→A) polymorphism with self-reported history of childhood asthma.
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- Human Genetics, 2000, v. 107, n. 6, p. 591, doi. 10.1007/s004390000410
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Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.
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- Human Genetics, 2000, v. 107, n. 6, p. 568, doi. 10.1007/s004390000429
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Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda.
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- Human Genetics, 2000, v. 107, n. 6, p. 612, doi. 10.1007/s004390000415
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Exclusion of Htra2-β1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy.
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- Human Genetics, 2000, v. 107, n. 6, p. 554, doi. 10.1007/s004390000409
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High-resolution Y chromosome haplotypes of Israeli and Palestinian Arabs reveal geographic substructure and substantial overlap with haplotypes of Jews.
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- Human Genetics, 2000, v. 107, n. 6, p. 630, doi. 10.1007/s004390000426
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Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).
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- Human Genetics, 2000, v. 107, n. 6, p. 546, doi. 10.1007/s004390000407
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Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.
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- Human Genetics, 2000, v. 107, n. 6, p. 537, doi. 10.1007/s004390000430
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Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population.
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- Human Genetics, 2000, v. 107, n. 6, p. 559, doi. 10.1007/s004390000421
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The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia.
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- Human Genetics, 2000, v. 107, n. 6, p. 642, doi. 10.1007/s004390000427
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Multilocus genetic analysis of single interphase cells by spectral imaging.
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- Human Genetics, 2000, v. 107, n. 6, p. 615, doi. 10.1007/s004390000416
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Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family.
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- Human Genetics, 2000, v. 107, n. 6, p. 597, doi. 10.1007/s004390000414
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Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination.
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- Human Genetics, 2000, v. 107, n. 6, p. 650, doi. 10.1007/s004390000428
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Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?
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- Human Genetics, 2000, v. 107, n. 6, p. 623, doi. 10.1007/s004390000417
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Y chromosome haplotypes reveal prehistorical migrations to the Himalayas.
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- Human Genetics, 2000, v. 107, n. 6, p. 582, doi. 10.1007/s004390000406
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Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene.
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- Human Genetics, 2000, v. 107, n. 6, p. 577, doi. 10.1007/s004390000431
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