Front & Back Matter.
- Published in:
- Molecular Syndromology, 2013, v. 4, n. 3, p. X, doi. 10.1159/000350637
- Publication type:
- Article
Works matching IS 16618769 AND DT 2013 AND VI 4 AND IP 3
Results: 9
1
2
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.
- Published in:
- Molecular Syndromology, 2013, v. 4, n. 3, p. 107, doi. 10.1159/000342486
- By:
- Publication type:
- Article
3
X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome.
- Published in:
- Molecular Syndromology, 2013, v. 4, n. 3, p. 114, doi. 10.1159/000343489
- By:
- Publication type:
- Article
4
Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism.
- Published in:
- Molecular Syndromology, 2013, v. 4, n. 3, p. 119, doi. 10.1159/000347029
- By:
- Publication type:
- Article
5
The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations.
- Published in:
- Molecular Syndromology, 2013, v. 4, n. 3, p. 125, doi. 10.1159/000347163
- By:
- Publication type:
- Article
6
Report on a Patient with a 12q24.31 Microdeletion Inherited from an Insulin-Dependent Diabetes Mellitus Father.
- Published in:
- Molecular Syndromology, 2013, v. 4, n. 3, p. 136, doi. 10.1159/000346473
- By:
- Publication type:
- Article
7
A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome.
- Published in:
- Molecular Syndromology, 2013, v. 4, n. 3, p. 143, doi. 10.1159/000347167
- By:
- Publication type:
- Article
8
COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type.
- Published in:
- Molecular Syndromology, 2013, v. 4, n. 3, p. 148, doi. 10.1159/000346644
- By:
- Publication type:
- Article
9
Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.
- Published in:
- Molecular Syndromology, 2013, v. 4, n. 3, p. 152, doi. 10.1159/000346798
- By:
- Publication type:
- Article