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Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry
Published 2021-05-01Subjects: “…cyp21a2…”
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A 4-hour Profile of 17-hydroxyprogesterone in Salt-wasting Congenital Adrenal Hyperplasia: Is the Serial Monitoring Strategy Worth the Effort?
Published 2022-06-01Subjects: “…cyp21a2…”
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A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene
Published 2024-10-01Subjects: Get full text
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5
Non-Classical Congenital Adrenal Hyperplasia-Causing Alleles in Adolescent Girls with PCOS and in Risk Group for PCOS Development
Published 2021-05-01Subjects: Get full text
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Clinical Characteristics of Taiwanese Children With Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency in the Pre-screening Era
Published 2010-02-01Subjects: Get full text
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Compound heterozygosity for a whole gene deletion and p.R124C mutation in causing nonclassic congenital adrenal hyperplasia
Published 2018-09-01Subjects: “…CYP21A2…”
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Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Published 2016-03-01Subjects: Get full text
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9
Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany
Published 2018-06-01Subjects: Get full text
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10
Direct molecular diagnosis of CYP21A2 point mutations in Macedonian and Serbian patients with 21-hydroxylase deficiency
Published 2015-01-01Subjects: Get full text
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11
Genotype-phenotype correlation in patients with 21-hydroxylase deficiency
Published 2023-03-01Subjects: Get full text
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The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes
Published 2023-05-01Subjects: “…CYP21A2…”
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13
ANALYSIS CYP21A2 GENE MUTATIONS TECHNIQUE IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA
Published 2014-02-01Subjects: Get full text
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14
Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation
Published 2024-03-01Subjects: Get full text
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Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach
Published 2019-06-01Subjects: Get full text
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Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia
Published 2018-12-01Subjects: Get full text
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18
Classic congenital adrenal hyperplasia with unilateral functional adrenal cortical adenoma: case report
Published 2024-12-01Subjects: Get full text
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The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family
Published 2019-06-01Subjects: Get full text
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Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera
Published 2023-07-01Subjects: Get full text
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