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Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 8, p. 1854, doi. 10.1002/jbmr.408
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- Article
MICAresponse to gliadin in intestinal mucosa from celiac patients.
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- Immunogenetics, 2004, v. 56, n. 8, p. 549, doi. 10.1007/s00251-004-0724-8
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- Publication type:
- Article
Genetic and metabolic determinants of increased plasma plasminogen activator inhibitor-1 activity in children with renal transplants.
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- Pediatric Nephrology, 2003, v. 18, n. 8, p. 749
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- Article
Hyperhomocysteinemia in children with renal transplants.
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- Pediatric Nephrology, 2002, v. 17, n. 9, p. 718
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- Publication type:
- Article
Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 9/10, p. 1129, doi. 10.1515/jpem-2014-0472
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- Article
New mutation type in pseudohypoparathyroidism type Ia.
- Published in:
- Clinical Endocrinology, 2008, v. 69, n. 5, p. 705, doi. 10.1111/j.1365-2265.2008.03255.x
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- Article
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.
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- Clinical Endocrinology, 2008, v. 68, n. 6, p. 873, doi. 10.1111/j.1365-2265.2008.03214.x
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- Article
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.
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- 2012
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- Publication type:
- journal article
ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation.
- Published in:
- European Journal of Pediatrics, 2009, v. 168, n. 1, p. 65, doi. 10.1007/s00431-008-0710-5
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- Publication type:
- Article
Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain.
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- Clinical Endocrinology, 2012, v. 76, n. 5, p. 719, doi. 10.1111/j.1365-2265.2011.04269.x
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- Article