Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 1, p. 43, doi. 10.1159/000444603
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2016 AND VI 7 AND IP 1
Results: 8
1
2
X-Linked Candidate Genes for a Ciliopathy-Like Disorder.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 1, p. 37, doi. 10.1159/000444666
- By:
- Publication type:
- Article
3
A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 1, p. 32, doi. 10.1159/000444771
- By:
- Publication type:
- Article
4
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 1, p. 26, doi. 10.1159/000444615
- By:
- Publication type:
- Article
5
Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 1, p. 19, doi. 10.1159/000444430
- By:
- Publication type:
- Article
6
Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 1, p. 12, doi. 10.1159/000444729
- By:
- Publication type:
- Article
7
SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 1, p. 3, doi. 10.1159/000444596
- By:
- Publication type:
- Article
8
A Loss or a Gain, Is It Not All the Same?
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 1, p. 1, doi. 10.1159/000443814
- By:
- Publication type:
- Article