Works matching IS 14345161 AND DT 1999 AND VI 44 AND IP 4
Results: 14
Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 219, doi. 10.1007/s100380050147
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The ADD1 G460W polymorphism is not associated with variation in blood pressure in Canadian Oji-Cree.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 225, doi. 10.1007/s100380050148
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Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 230, doi. 10.1007/s100380050149
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Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 235, doi. 10.1007/s100380050150
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Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 240, doi. 10.1007/s100380050151
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Selecting a contingency table in a population-based association study: allele frequency or positivity?
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 246, doi. 10.1007/s100380050152
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Cloning, expression analysis, and chromosomal localization of a novel butyrophilin-like receptor.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 249, doi. 10.1007/s100380050153
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Assignment of the human poly(A) polymerase (PAP) gene to chromosome 14q32.1-q32.2 and isolation of a polymorphic CA repeat sequence.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 253
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Isolation, tissue expression, and chromosomal assignment of a human LIM protein gene, showing homology to rat Enigma homologue (ENH).
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 256, doi. 10.1007/s100380050155
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EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 261, doi. 10.1007/s100380050156
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An AciI polymorphism in the 3′ untranslated region of the human phosphomannomutase 2 (PMM2) gene.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 266, doi. 10.1007/s100380050157
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Identification of a novel single base-pair polymorphism in the glutamate dehydrogenase (GLUD1) gene.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 268, doi. 10.1007/s100380050158
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An NcoI polymorphism in the human complement component 7 (C7) gene.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 270, doi. 10.1007/s100380050159
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A new single-nucleotide polymorphism in the seventh component of complement (C7) gene.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 272, doi. 10.1007/s100380050160
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