Late Breaking Chromosomes.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 1, p. 1, doi. 10.1159/000355850
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2014 AND VI 5 AND IP 1
Results: 9
1
2
Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 1, p. 3, doi. 10.1159/000355443
- By:
- Publication type:
- Article
3
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 1, p. X, doi. 10.1159/000358363
- Publication type:
- Article
4
A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 1, p. 11, doi. 10.1159/000356459
- By:
- Publication type:
- Article
5
A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 1, p. 19, doi. 10.1159/000355847
- By:
- Publication type:
- Article
6
Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 1, p. 25, doi. 10.1159/000355391
- By:
- Publication type:
- Article
7
A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 1, p. 32, doi. 10.1159/000356060
- By:
- Publication type:
- Article
8
Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 1, p. 36, doi. 10.1159/000355431
- By:
- Publication type:
- Article
9
Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 1, p. 41, doi. 10.1159/000356689
- By:
- Publication type:
- Article