Works matching IS 16618769 AND DT 2012 AND VI 2 AND IP 6
Results: 6
RE(ACT)<sup>®</sup>: INTERNATIONAL CONGRESS ON RESEARCH ON RARE AND ORPHAN DISEASES.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 6, p. 262, doi. 10.1159/000336858
- Publication type:
- Article
In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 6, p. 237, doi. 10.1159/000337323
- By:
- Publication type:
- Article
A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 6, p. 245, doi. 10.1159/000336191
- By:
- Publication type:
- Article
LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 6, p. 251, doi. 10.1159/000335995
- By:
- Publication type:
- Article
Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 6, p. 254, doi. 10.1159/000336581
- By:
- Publication type:
- Article
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation.
- Published in:
- Molecular Syndromology, 2012, v. 2, n. 6, p. 259, doi. 10.1159/000337925
- By:
- Publication type:
- Article