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Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 3, p. 750, doi. 10.1210/clinem/dgad577
- By:
- Publication type:
- Article
Current and future perspectives on clinical management of classic 21-hydroxylase deficiency.
- Published in:
- Endocrine Journal, 2023, v. 70, n. 10, p. 945, doi. 10.1507/endocrj.EJ23-0075
- By:
- Publication type:
- Article