Syndromes Hidden within the 16p11.2 Deletion Region.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 4, p. 171, doi. 10.1159/000490845
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2018 AND VI 9 AND IP 4
Results: 9
1
2
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 4, p. 205, doi. 10.1159/000490083
- By:
- Publication type:
- Article
3
A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 4, p. 197, doi. 10.1159/000489870
- By:
- Publication type:
- Article
4
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 4, p. 175, doi. 10.1159/000489842
- By:
- Publication type:
- Article
5
Front & Back Matter.
- Published in:
- 2018
- Publication type:
- Other
6
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in <bold>EFEMP2</bold>.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 4, p. 190, doi. 10.1159/000489838
- By:
- Publication type:
- Article
7
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 4, p. 182, doi. 10.1159/000489446
- By:
- Publication type:
- Article
8
Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 4, p. 219, doi. 10.1159/000489056
- By:
- Publication type:
- Article
9
Biallelic <bold>WRN</bold> Mutations in Newly Identified Japanese Werner Syndrome Patients.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 4, p. 214, doi. 10.1159/000489055
- By:
- Publication type:
- Article