Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.
Hasenmajer V et al.
Reviews in Endocrine & Metabolic Disorders, 2023
Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.
Gurpinar Tosun B et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in CYP11B2
Turan H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.
Merakou C et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.
Turan I et al.
Clinical Endocrinology, 2018
Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.
Üstyol A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
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