Works matching IS 03406717 AND DT 2015 AND VI 134 AND IP 8
Results: 11
ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.
- Published in:
- Human Genetics, 2015, v. 134, n. 8, p. 815, doi. 10.1007/s00439-015-1561-6
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- Article
Confronting the missing epistasis problem: on the reproducibility of gene-gene interactions.
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- Human Genetics, 2015, v. 134, n. 8, p. 837, doi. 10.1007/s00439-015-1564-3
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- Article
The somatic autosomal mutation matrix in cancer genomes.
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- Human Genetics, 2015, v. 134, n. 8, p. 851, doi. 10.1007/s00439-015-1566-1
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- Article
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.
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- Human Genetics, 2015, v. 134, n. 8, p. 881, doi. 10.1007/s00439-015-1567-0
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- Article
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
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- Human Genetics, 2015, v. 134, n. 8, p. 869, doi. 10.1007/s00439-015-1568-z
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- Article
Dhavendra Kumar and Charis Eng (eds): Genomic Medicine: Principles and Practice (Oxford Monographs on Medical Genetics) 2nd Edition.
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- 2015
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- Publication type:
- Book Review
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
- Published in:
- Human Genetics, 2015, v. 134, n. 8, p. 905, doi. 10.1007/s00439-015-1570-5
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- Article
Genetic polymorphism of APOB is associated with diabetes mellitus in sickle cell disease.
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- Human Genetics, 2015, v. 134, n. 8, p. 895, doi. 10.1007/s00439-015-1572-3
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- Article
Diversity of lactase persistence in African milk drinkers.
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- Human Genetics, 2015, v. 134, n. 8, p. 917, doi. 10.1007/s00439-015-1573-2
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- Article
Erratum to: The somatic autosomal mutation matrix in cancer genomes.
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- 2015
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- Publication type:
- Erratum
Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.
- Published in:
- Human Genetics, 2015, v. 134, n. 8, p. 823, doi. 10.1007/s00439-015-1559-0
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- Publication type:
- Article