Found: 9
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46,XX DSD Due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4605, doi. 10.3390/ijms20184605
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- Publication type:
- Article
Thyrotropin-Stimulating Hormone Receptor Gene Analysis in Pediatric Patients with Non-Autoimmune Subclinical Hypothyroid.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 11, p. 4187, doi. 10.1210/jc.2009-0618
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- Publication type:
- Article
CYP21 Genotype, Adult Height, and Pubertal Development in 55 Patients Treated for 21-Hydroxylase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 12, p. 5680, doi. 10.1210/jc.2003-030123
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- Publication type:
- Article
CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency.
- Published in:
- 2003
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- Publication type:
- journal article
Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia.
- Published in:
- 2017
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- Publication type:
- Case Study
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 610, doi. 10.1038/ejhg.2013.197
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- Publication type:
- Article
Current Loss-of-Function Mutations in the Thyrotropin Receptor Gene: When to Investigate, Clinical Effects, and Treatment.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2013, v. 5, p. 29, doi. 10.4274/Jcrpe.864
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- Publication type:
- Article
SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.
- Published in:
- Clinical Endocrinology, 2005, v. 63, n. 4, p. 375, doi. 10.1111/j.1365-2265.2005.02348.x
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- Publication type:
- Article
CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia–Romagna region.
- Published in:
- Clinical Endocrinology, 2000, v. 53, n. 1, p. 117, doi. 10.1046/j.1365-2265.2000.01048.x
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- Publication type:
- Article