Found: 7
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A genetic epidemiology study of congenital adrenal hyperplasia in Italy.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 2, p. 223, doi. 10.1111/cge.13078
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- Publication type:
- Article
Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 5, p. 453, doi. 10.1111/j.1399-0004.2008.00980.x
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- Publication type:
- Article
Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 3, p. 258, doi. 10.1034/j.1399-0004.2003.00125.x
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- Publication type:
- Article
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
- Published in:
- 2004
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- Publication type:
- journal article
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.
- Published in:
- Journal of Molecular Medicine, 2006, v. 84, n. 6, p. 521, doi. 10.1007/s00109-006-0043-7
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- Publication type:
- Article
Impact of Molecular Genetics on Congenital Adrenal Hyperplasia Management.
- Published in:
- Sexual Development, 2010, v. 4, n. 4/5, p. 233, doi. 10.1159/000315959
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- Publication type:
- Article
Deletion breakpoints in a 32 bp perfect repeat located 45.1 Kb apart in the human growth hormone gene cluster.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 12, p. 2151
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- Publication type:
- Article