Works matching IS 16618769 AND DT 2013 AND VI 3 AND IP 6
Results: 8
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
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- Article
Genotyping F0XG1 Mutations in Patients with Clinical Evidence of the F0XG1 Syndrome.
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- Molecular Syndromology, 2013, v. 3, n. 6, p. 284, doi. 10.1159/000345845
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- Article
Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes.
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- Molecular Syndromology, 2013, v. 3, n. 6, p. 274, doi. 10.1159/000345241
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- Article
Segmental Maternal UPD6 with Prenatal Growth Restriction.
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- Molecular Syndromology, 2013, v. 3, n. 6, p. 270, doi. 10.1159/000345168
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- Article
Live-Born Trisomy 22: Patient Report and Review.
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- Molecular Syndromology, 2013, v. 3, n. 6, p. 262, doi. 10.1159/000346189
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- Article
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.
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- Molecular Syndromology, 2013, v. 3, n. 6, p. 255, doi. 10.1159/000345653
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- Article
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.
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- Molecular Syndromology, 2013, v. 3, n. 6, p. 247, doi. 10.1159/000345578
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- Article
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
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- Article