A New Case of an Extremely Rare 3p21.31 Interstitial Deletion.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 2, p. 93, doi. 10.1159/000445227
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2016 AND VI 7 AND IP 2
Results: 7
1
2
Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 2, p. 87, doi. 10.1159/000445669
- By:
- Publication type:
- Article
3
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 2, p. 80, doi. 10.1159/000445397
- By:
- Publication type:
- Article
4
RASopathies: Presentation at the Genome, Interactome, and Phenome Levels.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 2, p. 72, doi. 10.1159/000445733
- By:
- Publication type:
- Article
5
Bardet-Biedl Syndrome.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 2, p. 62, doi. 10.1159/000445491
- By:
- Publication type:
- Article
6
Cytogenomic Aberrations in Congenital Cardiovascular Malformations.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 2, p. 51, doi. 10.1159/000445788
- By:
- Publication type:
- Article
7
The Growing Complexity of the Monosomy 1p36 Syndrome.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 2, p. 49, doi. 10.1159/000445138
- By:
- Publication type:
- Article