Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 3
Results: 22
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 283, doi. 10.1038/ejhg.2011.187
- By:
- Publication type:
- Article
Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 298, doi. 10.1038/ejhg.2011.194
- By:
- Publication type:
- Article
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 263, doi. 10.1038/ejhg.2011.189
- By:
- Publication type:
- Article
Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 341, doi. 10.1038/ejhg.2011.201
- By:
- Publication type:
- Article
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 305, doi. 10.1038/ejhg.2011.196
- By:
- Publication type:
- Article
Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
- Published in:
- 2012
- By:
- Publication type:
- Correction Notice
ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 291, doi. 10.1038/ejhg.2011.195
- By:
- Publication type:
- Article
A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 348, doi. 10.1038/ejhg.2011.204
- By:
- Publication type:
- Article
Researchers' opinions towards the communication of results of biobank research: a survey study.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 258, doi. 10.1038/ejhg.2011.216
- By:
- Publication type:
- Article
The novel mitochondrial tRNA<sup>Asn</sup> gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 357, doi. 10.1038/ejhg.2011.238
- By:
- Publication type:
- Article
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 271, doi. 10.1038/ejhg.2011.175
- By:
- Publication type:
- Article
Clinical utility gene card for: acrodermatitis enteropathica.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. -1, doi. 10.1038/ejhg.2011.227
- By:
- Publication type:
- Article
Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 326, doi. 10.1038/ejhg.2011.185
- By:
- Publication type:
- Article
Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 361, doi. 10.1038/ejhg.2011.215
- By:
- Publication type:
- Article
Neolithic patrilineal signals indicate that the Armenian plateau was repopulated by agriculturalists.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 313, doi. 10.1038/ejhg.2011.192
- By:
- Publication type:
- Article
Alagille syndrome: pathogenesis, diagnosis and management.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 251, doi. 10.1038/ejhg.2011.181
- By:
- Publication type:
- Article
Clinical utility gene card for: Adrenoleukodystrophy.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. -1, doi. 10.1038/ejhg.2011.193
- By:
- Publication type:
- Article
Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 321, doi. 10.1038/ejhg.2011.197
- By:
- Publication type:
- Article
Genome-wide association study of coronary artery disease in the Japanese.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 333, doi. 10.1038/ejhg.2011.184
- By:
- Publication type:
- Article
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 277, doi. 10.1038/ejhg.2011.186
- By:
- Publication type:
- Article
Clinical utility gene card for: Trimethylaminuria.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. -1, doi. 10.1038/ejhg.2011.214
- By:
- Publication type:
- Article
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 352, doi. 10.1038/ejhg.2011.217
- By:
- Publication type:
- Article