Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 12
Results: 13
Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1218, doi. 10.1038/sj.ejhg.5201911
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- Article
Genome-wide linkage scan for exercise participation in Dutch sibling pairs.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1252, doi. 10.1038/sj.ejhg.5201907
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- Article
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
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- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1230, doi. 10.1038/sj.ejhg.5201908
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- Article
Attitudes regarding carrier testing in incompetent children: a survey of European clinical geneticists.
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- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1211, doi. 10.1038/sj.ejhg.5201909
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- Publication type:
- Article
A simulation-based analysis of chromosome segment sharing among a group of arbitrarily related individuals.
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- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1260, doi. 10.1038/sj.ejhg.5201910
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- Article
VEGF C−634G polymorphism is associated with protection from isolated ventricular septal defect: case–control and TDT studies.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1246, doi. 10.1038/sj.ejhg.5201890
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- Article
Japanese and North American/European patients with Beckwith–Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1205, doi. 10.1038/sj.ejhg.5201912
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- Article
Czech dysplasia metatarsal type: another type II collagen disorder.
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- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1269, doi. 10.1038/sj.ejhg.5201913
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- Publication type:
- Article
A meta-analysis of association between C677T polymorphism in the methylenetetrahydrofolate reductase gene and hypertension.
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- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1239, doi. 10.1038/sj.ejhg.5201914
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- Article
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.
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- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1276, doi. 10.1038/sj.ejhg.5201924
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- Article
What? Where? Which? WWW Resources for Geneticists: Bioinformatics for geneticists: a bioinformatics primer for the analysis of genetic data.
- Published in:
- 2007
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- Publication type:
- Book Review
Genetic testing and counselling in Europe: health professionals current educational provision, needs assessment and potential strategies for the future.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1203, doi. 10.1038/sj.ejhg.5201927
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- Article
Alström Syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1193, doi. 10.1038/sj.ejhg.5201933
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- Article