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Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
- Published in:
- Human Genetics, 2010, v. 127, n. 2, p. 231, doi. 10.1007/s00439-009-0766-y
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- Publication type:
- Article
Erratum to: Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
- Published in:
- 2010
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- Publication type:
- Correction notice
Association of the -159C/T Polymorphism of the Endotoxin Receptor (CD14) with Carotid Artery Disease and Cardiovascular Mortality in Dialysis Patients.
- Published in:
- Blood Purification, 2005, v. 23, n. 2, p. 128, doi. 10.1159/000083207
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- Publication type:
- Article
Genetic heterogeneity in LEOPARD syndrome: two families with no mutations inPTPN11.
- Published in:
- Journal of Human Genetics, 2005, v. 50, n. 1, p. 21, doi. 10.1007/s10038-004-0212-x
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- Publication type:
- Article
Association of interleukin-6 -174G/C promoter polymorphism with hypertension and left ventricular hypertrophy in dialysis patients.
- Published in:
- Kidney International, 2003, v. 64, n. 2, p. 616, doi. 10.1046/j.1523-1755.2003.00119.x
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- Publication type:
- Article
Polymorphism of renin–angiotensin system genes in dialysis patients—association with cerebrovascular disease.
- Published in:
- Nephrology Dialysis Transplantation, 2002, v. 17, n. 12, p. 2184, doi. 10.1093/ndt/17.12.2184
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- Publication type:
- Article
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 421, doi. 10.1007/s00439-002-0803-6
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- Publication type:
- Article
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
- Published in:
- Nature Genetics, 2001, v. 29, n. 4, p. 465, doi. 10.1038/ng772
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- Publication type:
- Article
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).
- Published in:
- Nature Genetics, 1998, v. 20, n. 2, p. 143, doi. 10.1038/2441
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- Publication type:
- Article
Prohormone convertase 1 in obesity, gestational diabetes mellitus, and NIDDM: no evidence for a major susceptibility role.
- Published in:
- 1998
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- Publication type:
- journal article