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Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. 2033, doi. 10.1002/humu.23847
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- Publication type:
- Article
Higher Adiponectin Levels in Patients with Berardinelli-Seip Congenital Lipodystrophy due to Seipin as compared with 1-Acylglycerol-3-Phosphate-O-Acyltransferase-2 Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 3, p. 1463, doi. 10.1210/jc.2009-1824
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Human peroxisome proliferator-activated receptor-gamma2: genetic mapping, identification of a variant in the coding sequence, and exclusion as the gene responsible for lipoatrophic diabetes.
- Published in:
- 1998
- By:
- Publication type:
- journal article