Works matching IS 03406717 AND DT 2015 AND VI 134 AND IP 9
Results: 10
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
- Published in:
- Human Genetics, 2015, v. 134, n. 9, p. 967, doi. 10.1007/s00439-015-1575-0
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- Article
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
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- Human Genetics, 2015, v. 134, n. 9, p. 981, doi. 10.1007/s00439-015-1577-y
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- Article
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.
- Published in:
- Human Genetics, 2015, v. 134, n. 9, p. 951, doi. 10.1007/s00439-015-1578-x
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- Article
KIR and HLA under pressure: evidences of coevolution across worldwide populations.
- Published in:
- Human Genetics, 2015, v. 134, n. 9, p. 929, doi. 10.1007/s00439-015-1579-9
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- Publication type:
- Article
Revisiting disease genes based on whole-exome sequencing in consanguineous populations.
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- Human Genetics, 2015, v. 134, n. 9, p. 1029, doi. 10.1007/s00439-015-1580-3
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- Publication type:
- Article
Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.
- Published in:
- Human Genetics, 2015, v. 134, n. 9, p. 993, doi. 10.1007/s00439-015-1581-2
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- Article
Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome.
- Published in:
- Human Genetics, 2015, v. 134, n. 9, p. 1003, doi. 10.1007/s00439-015-1582-1
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- Article
Mosaic maternal ancestry in the Great Lakes region of East Africa.
- Published in:
- Human Genetics, 2015, v. 134, n. 9, p. 1013, doi. 10.1007/s00439-015-1583-0
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- Publication type:
- Article
Louanne Hudgins, Helga V. Toriello, Gregory M. Enns and H. Eugene Hoyme (eds): Signs and Symptoms of Genetic Conditions, a Handbook.
- Published in:
- 2015
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- Publication type:
- Book Review
Mutation of ATF6 causes autosomal recessive achromatopsia.
- Published in:
- Human Genetics, 2015, v. 134, n. 9, p. 941, doi. 10.1007/s00439-015-1571-4
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- Publication type:
- Article