Found: 13
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Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00490-8
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- Publication type:
- Article
Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.
- Published in:
- PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0195471
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- Publication type:
- Article
WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 24, p. 4012, doi. 10.1093/hmg/ddn304
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- Publication type:
- Article
Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 4, p. 1129, doi. 10.1210/jc.2007-1328
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- Publication type:
- Article
Fibrinogen and coronary heart disease: test of causality by ‘Mendelian randomization’.
- Published in:
- International Journal of Epidemiology, 2006, v. 35, n. 4, p. 935, doi. 10.1093/ije/dyl114
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- Publication type:
- Article
Lipid-related genes and myocardial infarction in 4685 cases and 3460 controls: discrepancies between genotype, blood lipid concentrations, and coronary disease risk.
- Published in:
- International Journal of Epidemiology, 2004, v. 33, n. 5, p. 1002, doi. 10.1093/ije/dyh275
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- Publication type:
- Article
Wolcott-Rallison Syndrome.
- Published in:
- Diabetes, 2004, v. 53, n. 7, p. 1876, doi. 10.2337/diabetes.53.7.1876
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- Publication type:
- Article
Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome.
- Published in:
- 2004
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- Publication type:
- journal article
Prevalence of mutations in AGPAT2 among human lipodystrophies.
- Published in:
- 2003
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- Publication type:
- journal article
Identification of the gene altered in Berardinelli?Seip congenital lipodystrophy on chromosome 11q13.
- Published in:
- Nature Genetics, 2001, v. 28, n. 4, p. 365
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- Publication type:
- Article
EIF2AK3, encoding translation initiation factor 2-α kinase 3, is mutated in patients with Wolcott-Rallison syndrome.
- Published in:
- Nature Genetics, 2000, v. 25, n. 4, p. 406, doi. 10.1038/78085
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- Publication type:
- Article
Fine-mapping of an ancestral recombination breakpoint in DCP1.
- Published in:
- Nature Genetics, 1999, v. 23, n. 3, p. 270, doi. 10.1038/15449
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- Publication type:
- Article
Genetic Susceptibility for Human Familial Essential Hypertension in a Region of Homology with Blood Pressure Linkage on Rat Chromosome 10.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 12, p. 2077, doi. 10.1093/hmg/6.12.2077
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- Publication type:
- Article