Works matching IS 16618769 AND DT 2014 AND VI 5 AND IP 5
Results: 10
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 5, p. X, doi. 10.1159/000358363
- Publication type:
- Article
What a Difference an ERCC1 or ERCC4 (XPF) Mutation Makes!
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 5, p. 199, doi. 10.1159/000358893
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- Publication type:
- Article
Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 5, p. 201, doi. 10.1159/000365770
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- Publication type:
- Article
Clinical and Molecular Findings of Tunisian Patients with RASopathies.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 5, p. 212, doi. 10.1159/000362898
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- Publication type:
- Article
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 5, p. 218, doi. 10.1159/000365057
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- Publication type:
- Article
A Candidate Gene Association Study Further Corroborates Involvement of Contactin Genes in Autism.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 5, p. 229, doi. 10.1159/000362891
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- Publication type:
- Article
A Novel Fibrillin 1 Gene Mutation Leading to Marfan Syndrome with Minimal Cardiac Features.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 5, p. 236, doi. 10.1159/000358846
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- Publication type:
- Article
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 5, p. 241, doi. 10.1159/000365769
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- Publication type:
- Article
A Novel (Paternally Inherited) Duplication 13q31.3q32.3 in a 12-Year-Old Patient with Facial Dysmorphism and Developmental Delay.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 5, p. 245, doi. 10.1159/000358538
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- Publication type:
- Article
Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 5, p. 251, doi. 10.1159/000365768
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- Publication type:
- Article