Found: 16
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Optimized nested PCR enhances biological diagnosis and phylogenetic analysis of human parvovirus B19 infections.
- Published in:
- Archives of Virology, 2019, v. 164, n. 11, p. 2775, doi. 10.1007/s00705-019-04368-w
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- Article
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene.
- Published in:
- Frontiers in Endocrinology, 2018, p. 1, doi. 10.3389/fendo.2018.00491
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- Publication type:
- Article
Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.867073
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- Publication type:
- Article
Molecular Defects of the CYP21A2 Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia.
- Published in:
- Hormone Research in Paediatrics, 2011, v. 75, n. 3, p. 180, doi. 10.1159/000320040
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- Article
Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents.
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- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 6, p. 777, doi. 10.1515/jpem-2021-0696
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- Publication type:
- Article
Growth curves for congenital adrenal hyperplasia from a national retrospective cohort.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 12, p. 1379, doi. 10.1515/jpem-2016-0156
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- Publication type:
- Article
Exposure to Glucocorticoids in the First Part of Fetal Life is Associated with Insulin Secretory Defect in Adult Humans.
- Published in:
- 2019
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- Publication type:
- journal article
Precocious Pubarche: Distinguishing Late-Onset Congenital Adrenal Hyperplasia from Premature Adrenarche.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 8, p. 2835, doi. 10.1210/jc.2009-0314
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- Publication type:
- Article
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
- Published in:
- 2009
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- Publication type:
- journal article
New Insight into the Molecular Basis of 3βHydroxysteroid Dehydrogenase Deficiency: Identification of Eight Mutations in the HSD3B2 Gene in Eleven Patients from Seven New Families and Comparison of the Functional Properties of Twenty-Five Mutant Enzymes.
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- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 12, p. 4410, doi. 10.1210/jcem.84.12.6288
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- Publication type:
- Article
Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus.
- Published in:
- 2015
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- Publication type:
- journal article
New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011)
- Published in:
- 2014
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- Publication type:
- Journal Article
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.
- Published in:
- Indian Journal of Medical Research, 2017, v. 145, n. 2, p. 194, doi. 10.4103/ijmr.IJMR_329_16
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- Publication type:
- Article
CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.
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- Clinical Chemistry & Laboratory Medicine, 2008, v. 46, n. 12, p. 1707, doi. 10.1515/CCLM.2008.339
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- Article
Fertility and pregnancy outcomes in women with nonclassic 21‐hydroxylase deficiency.
- Published in:
- Clinical Endocrinology, 2023, v. 98, n. 3, p. 315, doi. 10.1111/cen.14842
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- Publication type:
- Article
Secondary amenorrhoea associated with high serum 17-hydroxyprogesterone levels revealing a heterozygous CYP21A2 mutation in a woman with Addison disease.
- Published in:
- Clinical Endocrinology, 2015, v. 82, n. 4, p. 620, doi. 10.1111/cen.12646
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- Publication type:
- Article