Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 1, p. 1, doi. 10.1159/000338706
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2012 AND VI 3 AND IP 1
Results: 9
1
2
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 1, p. 6, doi. 10.1159/000338975
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- Publication type:
- Article
3
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 1, p. X, doi. 10.1159/000339970
- Publication type:
- Article
4
Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 1, p. 14, doi. 10.1159/000339119
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- Publication type:
- Article
5
Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 1, p. 21, doi. 10.1159/000337928
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- Publication type:
- Article
6
Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 1, p. 25, doi. 10.1159/000339177
- By:
- Publication type:
- Article
7
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 1, p. 30, doi. 10.1159/000338816
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- Publication type:
- Article
8
NRAS Mutations in Noonan Syndrome.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 1, p. 34, doi. 10.1159/000338467
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- Publication type:
- Article
9
Interstitial 4q Deletion and Isodicentric Y-Chromosome in a Patient with Dysmorphic Features.
- Published in:
- Molecular Syndromology, 2012, v. 3, n. 1, p. 39, doi. 10.1159/000338468
- By:
- Publication type:
- Article