Works matching IS 03406717 AND DT 2005 AND VI 117 AND IP 5
Results: 12
Yury Verlinsky and Anver Kuliev (eds) Atlas of preimplantation genetic diagnosis, 2nd edition. Taylor & Francis, ISBN 1-842-14245-3, hardcover.
- Published in:
- 2005
- By:
- Publication type:
- Book Review
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.
- Published in:
- Human Genetics, 2005, v. 117, n. 5, p. 460, doi. 10.1007/s00439-005-1318-8
- By:
- Publication type:
- Article
Silvia Garagna (ed) Mouse genetics after the mouse genome. Karger, ISBN 3-805-57783-4, hardcover.
- Published in:
- 2005
- By:
- Publication type:
- Book Review
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease.
- Published in:
- Human Genetics, 2005, v. 117, n. 5, p. 411, doi. 10.1007/s00439-005-1321-0
- By:
- Publication type:
- Article
The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.
- Published in:
- Human Genetics, 2005, v. 117, n. 5, p. 467, doi. 10.1007/s00439-005-1307-y
- By:
- Publication type:
- Article
Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
- Published in:
- Human Genetics, 2005, v. 117, n. 5, p. 452, doi. 10.1007/s00439-005-1309-9
- By:
- Publication type:
- Article
Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis.
- Published in:
- Human Genetics, 2005, v. 117, n. 5, p. 428, doi. 10.1007/s00439-005-1333-9
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- Publication type:
- Article
Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia.
- Published in:
- Human Genetics, 2005, v. 117, n. 5, p. 494, doi. 10.1007/s00439-005-1338-4
- By:
- Publication type:
- Article
Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides.
- Published in:
- Human Genetics, 2005, v. 117, n. 5, p. 444, doi. 10.1007/s00439-005-1340-x
- By:
- Publication type:
- Article
Human Molecular Genetics, 3rd edition, by Tom Strachan, Andrew Read. Garland Science, ISBN 0-8153-4184-9, paperback.
- Published in:
- 2005
- By:
- Publication type:
- Book Review
Intercellular adhesion molecule-1 and childhood asthma.
- Published in:
- Human Genetics, 2005, v. 117, n. 5, p. 476, doi. 10.1007/s00439-005-1319-7
- By:
- Publication type:
- Article
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS.
- Published in:
- Human Genetics, 2005, v. 117, n. 5, p. 485, doi. 10.1007/s00439-005-1331-y
- By:
- Publication type:
- Article