Works matching IS 14345161 AND DT 2003 AND VI 48 AND IP 6
Results: 10
Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.
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- Journal of Human Genetics, 2003, v. 48, n. 6, p. 283, doi. 10.1007/s10038-003-0023-5
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Association of natural tooth loss with genetic variation at the human matrix Gla protein locus in elderly women.
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- Journal of Human Genetics, 2003, v. 48, n. 6, p. 288, doi. 10.1007/s10038-003-0024-4
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Association of single-nucleotide polymorphisms in the polymeric immunoglobulin receptor gene with immunoglobulin A nephropathy (IgAN) in Japanese patients.
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- Journal of Human Genetics, 2003, v. 48, n. 6, p. 293, doi. 10.1007/s10038-003-0027-1
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The role of the IKAP gene polymorphisms in atopic diseases in the middle European population.
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- Journal of Human Genetics, 2003, v. 48, n. 6, p. 300, doi. 10.1007/s10038-003-0028-0
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Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene.
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- Journal of Human Genetics, 2003, v. 48, n. 6, p. 305, doi. 10.1007/s10038-003-0029-z
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Association of positional and functional candidate genes FGF1, FBN2, and LOX on 5q31 with intracranial aneurysm.
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- Journal of Human Genetics, 2003, v. 48, n. 6, p. 309, doi. 10.1007/s10038-003-0030-6
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Cloning and characterization of a novel gene which encodes a protein interacting with the mitosis-associated kinase-like protein NTKL.
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- Journal of Human Genetics, 2003, v. 48, n. 6, p. 315, doi. 10.1007/s10038-003-0031-5
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Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients.
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- Journal of Human Genetics, 2003, v. 48, n. 6, p. 322, doi. 10.1007/s10038-003-0032-4
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Establishment of a method of anonymization of DNA samples in genetic research.
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- Journal of Human Genetics, 2003, v. 48, n. 6, p. 327, doi. 10.1007/s10038-003-0022-6
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GPC5 is a possible target for the 13q31-q32 amplification detected in lymphoma cell lines.
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- Journal of Human Genetics, 2003, v. 48, n. 6, p. 331, doi. 10.1007/s10038-003-0026-2
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- Article