Found: 6
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Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease?
- Published in:
- 2019
- By:
- Publication type:
- letter
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 884, doi. 10.1038/sj.ejhg.5201633
- By:
- Publication type:
- Article
Genetic professionals'reports of nondisclosure of genetic risk information within families.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 556, doi. 10.1038/sj.ejhg.5201394
- By:
- Publication type:
- Article
The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature.
- Published in:
- 2006
- By:
- Publication type:
- journal article
The Impact of Juvenile Huntington's Disease on the Family The Case of a Rare Childhood Condition.
- Published in:
- Journal of Health Psychology, 2008, v. 13, n. 1, p. 5, doi. 10.1177/1359105307084307
- By:
- Publication type:
- Article
ATRX Encodes a Novel Member of the SNF2 Family of Proteins: Mutations Point to a Common Mechanism Underlying the ATR-X Syndrome.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1899, doi. 10.1093/hmg/5.12.1899
- By:
- Publication type:
- Article