Found: 6
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Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 5, p. 584, doi. 10.1111/cge.12720
- By:
- Publication type:
- Article
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 5, p. 630, doi. 10.1111/cge.12696
- By:
- Publication type:
- Article
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 7, p. 651, doi. 10.1002/(SICI)1097-0223(199807)18:7<651::AID-PD316>3.0.CO;2-V
- By:
- Publication type:
- Article
Delineation of 15q13.3 microdeletions.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 2, p. 149, doi. 10.1111/j.1399-0004.2010.01374.x
- By:
- Publication type:
- Article
New ocular phenotype associated with a mutation in the PAX2 gene.
- Published in:
- 2010
- By:
- Publication type:
- Letter