Found: 15
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Follow-up and Risk of Tumors in Overgrowth Syndromes.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, p. 1227
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- Publication type:
- Article
SHOX Intragenic Microsatellite Analysis in Patients with Short Stature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2002, v. 15, n. 2, p. 139, doi. 10.1515/jpem.2002.15.2.139
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- Publication type:
- Article
Novel Internet of Things Platform for In-Building Power Quality Submetering.
- Published in:
- Applied Sciences (2076-3417), 2018, v. 8, n. 8, p. 1320, doi. 10.3390/app8081320
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- Article
Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 125, doi. 10.1038/ejhg.2011.210
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- Publication type:
- Article
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1218, doi. 10.1038/ejhg.2011.128
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- Publication type:
- Article
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
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- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 416, doi. 10.1038/ejhg.2010.236
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- Publication type:
- Article
Individualised vs fixed dose of oral 17b-oestradiol for induction of puberty in girls with Turner syndrome: an open-randomised parallel trial.
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- European Journal of Endocrinology, 2012, v. 167, n. 4, p. 523, doi. 10.1530/EJE-12-0444
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- Publication type:
- Article
Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.
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- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 395, doi. 10.1515/jpem.2011.024
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- Publication type:
- Article
Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.
- Published in:
- 2011
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- Case Study
Plasma and urine metabolic fingerprinting of type 1 diabetic children.
- Published in:
- Electrophoresis, 2013, v. 34, n. 19, p. 2882, doi. 10.1002/elps.201300062
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- Article
Microsatellite markers in the indirect analysis of the steroid 21-hydroxylase gene.
- Published in:
- 1997
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- Publication type:
- journal article
Primary Acid-Labile Subunit Deficiency due to Recessive IGFALS Mutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth Factor (IGF)-I, IGF Binding Protein-3 Levels, and Hyperinsulinemia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 5, p. 1616, doi. 10.1210/jc.2007-2678
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- Publication type:
- Article
Improvement in Growth after Two Years of Growth Hormone Therapy in Very Young Children Born Small for Gestational Age and without Spontaneous Catch-Up Growth: Results of a Multicenter, Controlled, Randomized, Open Clinical Trial.
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- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 8, p. 3095, doi. 10.1210/jc.2007-0078
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- Publication type:
- Article
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
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- 2004
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- Publication type:
- journal article
Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 9, p. 4184, doi. 10.1210/jc.2010-0489
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- Publication type:
- Article