Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome.
- Published in:
- Molecular Syndromology, 2013, v. 3, n. 6, p. 288, doi. 10.1159/000345924
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2013 AND VI 3 AND IP 6
Results: 8
1
2
Genotyping F0XG1 Mutations in Patients with Clinical Evidence of the F0XG1 Syndrome.
- Published in:
- Molecular Syndromology, 2013, v. 3, n. 6, p. 284, doi. 10.1159/000345845
- By:
- Publication type:
- Article
3
Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes.
- Published in:
- Molecular Syndromology, 2013, v. 3, n. 6, p. 274, doi. 10.1159/000345241
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- Publication type:
- Article
4
Segmental Maternal UPD6 with Prenatal Growth Restriction.
- Published in:
- Molecular Syndromology, 2013, v. 3, n. 6, p. 270, doi. 10.1159/000345168
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- Publication type:
- Article
5
Live-Born Trisomy 22: Patient Report and Review.
- Published in:
- Molecular Syndromology, 2013, v. 3, n. 6, p. 262, doi. 10.1159/000346189
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- Publication type:
- Article
6
A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family.
- Published in:
- Molecular Syndromology, 2013, v. 3, n. 6, p. 255, doi. 10.1159/000345653
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- Publication type:
- Article
7
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.
- Published in:
- Molecular Syndromology, 2013, v. 3, n. 6, p. 247, doi. 10.1159/000345578
- By:
- Publication type:
- Article
8
Genetics and Epigenetics Collide at HDAC8 in Region Xq13.1.
- Published in:
- Molecular Syndromology, 2013, v. 3, n. 6, p. 245, doi. 10.1159/000343747
- By:
- Publication type:
- Article