Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 9
Results: 18
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1013, doi. 10.1038/sj.ejhg.5201442
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- Article
Estrogen receptor beta gene variants are associated with increased risk of Alzheimer's disease in women.
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- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1000, doi. 10.1038/sj.ejhg.5201447
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- Article
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
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- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1033, doi. 10.1038/sj.ejhg.5201448
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- Article
Nondisease genetic testing: reporting of muscle SNPs shows effects on self-concept and health orientation scales.
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- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1047, doi. 10.1038/sj.ejhg.5201449
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- Article
Communication of pharmacogenetic research results to HIV-infected treated patients: standpoints of professionals and patients.
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- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1055, doi. 10.1038/sj.ejhg.5201450
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- Article
Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype.
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- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1040, doi. 10.1038/sj.ejhg.5201452
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- Article
Combining the case–control methodology with the small size transmission/disequilibrium test for multiallelic markers.
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- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1007, doi. 10.1038/sj.ejhg.5201453
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- Article
Pedigree construction and disease confirmation: a pilot study in Wales exploring the role of nonclinical personnel.
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- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1063, doi. 10.1038/sj.ejhg.5201454
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- Article
A new edition of a must have handbook for genetic counsellors.
- Published in:
- 2005
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- Publication type:
- Book Review
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1019, doi. 10.1038/sj.ejhg.5201456
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- Article
Ultraconserved regions in multiple sclerosis.
- Published in:
- 2005
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- Publication type:
- Letter
Potential harms, anonymization, and the right to withdraw consent to biobank research.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1071, doi. 10.1038/sj.ejhg.5201458
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- Publication type:
- Article
Polymorphism at 3′ UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt–Jakob disease.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1094, doi. 10.1038/sj.ejhg.5201460
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- Publication type:
- Article
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
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- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1086, doi. 10.1038/sj.ejhg.5201455
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- Publication type:
- Article
Partners of mutation-carriers for Huntington's disease: forgotten persons?
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- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1077, doi. 10.1038/sj.ejhg.5201462
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- Publication type:
- Article
Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1025, doi. 10.1038/sj.ejhg.5201463
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- Publication type:
- Article
Gene Expression: Growing up together may help genes go their separate ways.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 993, doi. 10.1038/sj.ejhg.5201464
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- Publication type:
- Article
Research Networks: BioSapiens: a European network for integrated genome annotation.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 994, doi. 10.1038/sj.ejhg.5201470
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- Article