Works matching IS 03406717 AND DT 2004 AND VI 115 AND IP 2
Results: 14
Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primates.
- Published in:
- Human Genetics, 2004, v. 115, n. 2, p. 116, doi. 10.1007/s00439-004-1120-z
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- Article
Does haplotype diversity predict power for association mapping of disease susceptibility?
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- Human Genetics, 2004, v. 115, n. 2, p. 157, doi. 10.1007/s00439-004-1122-x
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- Article
Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency.
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- Human Genetics, 2004, v. 115, n. 2, p. 123, doi. 10.1007/s00439-004-1124-8
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- Article
Refinement of the 6p21.3 quantitative trait locus influencing dyslexia: linkage and association analyses.
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- Human Genetics, 2004, v. 115, n. 2, p. 128, doi. 10.1007/s00439-004-1126-6
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- Article
Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.
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- Human Genetics, 2004, v. 115, n. 2, p. 104, doi. 10.1007/s00439-004-1127-5
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- Article
Somatic mutations of CASP3 gene in human cancers.
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- Human Genetics, 2004, v. 115, n. 2, p. 112, doi. 10.1007/s00439-004-1129-3
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- Article
Lexikon der Syndrome und Fehlbildungen. Ursachen, Genetik, Risiken (2003): R. Witkowski, O. Prokop, E. Ullrich, G. Thiel: 7. Auflage, Springer-Verlag Berlin-Heidelberg-New York, ISBN 3-540-44305-3, hardcover, 1347 pages, 124.95 Euro.
- Published in:
- 2004
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- Publication type:
- Book Review
Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.
- Published in:
- Human Genetics, 2004, v. 115, n. 2, p. 97, doi. 10.1007/s00439-004-1139-1
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- Article
A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.
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- Human Genetics, 2004, v. 115, n. 2, p. 139, doi. 10.1007/s00439-004-1134-6
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- Article
Increased amount of the angiotensin-converting enzyme (ACE) mRNA originating from the ACE allele with deletion.
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- Human Genetics, 2004, v. 115, n. 2, p. 91, doi. 10.1007/s00439-004-1136-4
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- Article
Human evolutionary genetics: origins, peoples, and disease (2004): M.A. Jobling, M.E. Hurles and C. Tyler-Smith: Garland Science, ISBN 0-8153-4885-7, paperback.
- Published in:
- 2004
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- Publication type:
- Book Review
Myotonic dystrophy: present management, future therapy (2004): P.S. Harper, B.G.M. van Engelen, B. Eymard, D.E. Wilcox (Editors): 1st edition, Oxford University Press, Oxford, ISBN 0198-52782-9, hardcover, £55.
- Published in:
- 2004
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- Publication type:
- Book Review
Human Gene Mutations.
- Published in:
- Human Genetics, 2004, v. 115, n. 2, p. 169, doi. 10.1007/s00439-004-1148-0
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- Article
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
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- Human Genetics, 2004, v. 115, n. 2, p. 149, doi. 10.1007/s00439-004-1137-3
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- Article