Works matching IS 03406717 AND DT 2004 AND VI 115 AND IP 5
Results: 14
Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe.
- Published in:
- Human Genetics, 2004, v. 115, n. 5, p. 357, doi. 10.1007/s00439-004-1168-9
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- Article
Functional analysis of two-amino acid substitutions in gp91phoxin a patient with X-linked flavocytochromeb<sub>558</sub>-positive chronic granulomatous disease by means of transgenic PLB-985 cells.
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- Human Genetics, 2004, v. 115, n. 5, p. 418, doi. 10.1007/s00439-004-1173-z
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- Article
Role of an intronic polymorphism in thePDCD1gene with the risk of sporadic systemic lupus erythematosus and the occurrence of antiphospholipid antibodies.
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- Human Genetics, 2004, v. 115, n. 5, p. 393, doi. 10.1007/s00439-004-1172-0
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- Article
First case of aplastic anemia in a Japanese child with a homozygous missense mutation in theNBS1gene (I171V) associated with genomic instability.
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- Human Genetics, 2004, v. 115, n. 5, p. 372, doi. 10.1007/s00439-004-1155-1
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- Article
Functional disomy resulting from duplications of distal Xq in four unrelated patients.
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- Human Genetics, 2004, v. 115, n. 5, p. 399, doi. 10.1007/s00439-004-1175-x
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- Article
Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.
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- Human Genetics, 2004, v. 115, n. 5, p. 409, doi. 10.1007/s00439-004-1166-y
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- Article
Low prevalence ofMYOCmutations in UK primary open-angle glaucoma patients limits the utility of genetic testing.
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- Human Genetics, 2004, v. 115, n. 5, p. 428, doi. 10.1007/s00439-004-1171-1
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- Article
Jozef Gécz, Grant R. Sutherland (eds): Nucleotide and protein expansions and human disease. Karger, 2003, ISBN 3-8055-7621-8, 298 pp, hardcover, 95.50 Euros.
- Published in:
- 2004
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- Book Review
Landmarks in medical genetics: classic papers with commentaries. Peter S. Harper (ed), Oxford University Press, New York, 2004, ISBN 0-19-515930-6, 336 pages, hardcover, $89.50.
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- 2004
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- Publication type:
- Book Review
A large MSH2 Alu insertion mutation causes HNPCC in a German kindred.
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- Human Genetics, 2004, v. 115, n. 5, p. 432, doi. 10.1007/s00439-004-1176-9
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- Article
Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola.
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- Human Genetics, 2004, v. 115, n. 5, p. 439, doi. 10.1007/s00439-004-1164-0
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- Article
Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita.
- Published in:
- Human Genetics, 2004, v. 115, n. 5, p. 448, doi. 10.1007/s00439-004-1178-7
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- Article
Positive selection in MAOA gene is human exclusive: determination of the putative amino acid change selected in the human lineage.
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- Human Genetics, 2004, v. 115, n. 5, p. 377, doi. 10.1007/s00439-004-1179-6
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- Article
A longitudinal study of X-inactivation ratio in human females.
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- Human Genetics, 2004, v. 115, n. 5, p. 387, doi. 10.1007/s00439-004-1177-8
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- Article