Works matching IS 16618769 AND DT 2014 AND VI 5 AND IP 2
Results: 8
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 2, p. X, doi. 10.1159/000360663
- Publication type:
- Article
Enhancing the Incidental Pipeline in Genomic Sequencing.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 2, p. 47, doi. 10.1159/000357929
- By:
- Publication type:
- Article
Update on the Genetics of Bardet-Biedl Syndrome.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 2, p. 51, doi. 10.1159/000357054
- By:
- Publication type:
- Article
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 2, p. 57, doi. 10.1159/000357359
- By:
- Publication type:
- Article
Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and Expression Studies.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 2, p. 65, doi. 10.1159/000357962
- By:
- Publication type:
- Article
Decreased Expression of Genes Associated with Memory and X-Linked Mental Retardation in Boys with Non-Syndromic Cryptorchidism and High Infertility Risk.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 2, p. 76, doi. 10.1159/000357931
- By:
- Publication type:
- Article
Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 2, p. 81, doi. 10.1159/000357264
- By:
- Publication type:
- Article
RE(ACT) Rare Diseases. 2nd International Congress on Research of Rare and Orphan Diseases. 5th to 8th March 2014, Gehry Building, Novartis Campus, Basel: Abstracts.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 2, p. 87, doi. 10.1159/000358504
- Publication type:
- Article