Found: 5
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Kallmann's Syndrome with a Novel Missense Mutation in the KALI Gene that Modifies the Major Cell Adhesion Site of the Anosmin-1 Protein.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 6, p. 545, doi. 10.1515/jpem.2005.18.6.545
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- Publication type:
- Article
Hypochondroplasia and acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
- Published in:
- European Journal of Endocrinology, 2008, v. 159, n. 3, p. 243, doi. 10.1530/EJE-08-0393
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- Publication type:
- Article
Evolutionary Analyses of Entire Genomes Do Not Support the Association of mtDNA Mutations with Ras/MAPK Pathway Syndromes.
- Published in:
- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018348
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- Publication type:
- Article
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
- Published in:
- 2010
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- Publication type:
- journal article
Central Precocious Puberty in Children Living in Spain: Incidence, Prevalence, and Influence of Adoption and Immigration.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 9, p. 4305, doi. 10.1210/jc.2010-1025
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- Publication type:
- Article