High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 3, p. 140, doi. 10.1159/000341373
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2012 AND VI 3 AND IP 3
Results: 7
1
2
MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 3, p. 136, doi. 10.1159/000341501
- By:
- Publication type:
- Article
3
A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 3, p. 131, doi. 10.1159/000341632
- By:
- Publication type:
- Article
4
Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 3, p. 120, doi. 10.1159/000341935
- By:
- Publication type:
- Article
5
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 3, p. 113, doi. 10.1159/000341375
- By:
- Publication type:
- Article
6
Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 3, p. 102, doi. 10.1159/000342008
- By:
- Publication type:
- Article
7
Chromothripsis Challenges the Germline.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 3, p. 99, doi. 10.1159/000341255
- By:
- Publication type:
- Article