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Øzdemir, Cagla Margit; Nielsen, Mette Mølby; Liimatta, Jani; Voegel, Clarissa D; Naamneh Elzenaty, Rawda; Wasehuus, Victor S; Lind-Holst, Marie; Ornstrup, Marie Juul; Gram, Stine Bjørn; Ousager, Lilian Bomme; Flück, Christa E; Gravholt, Claus H (2024). Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant. Endocrinology, diabetes & metabolism case reports, 2024(3) Bioscientifica 10.1530/EDM-23-0090
Naamneh Elzenaty, Rawda; Martinez de Lapiscina, Idoia; Kouri, Chrysanthi; Sauter, Kay-Sara; Sommer, Grit; Castaño, Luis; Flück, Christa E (2024). Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae251
Liimatta, Jani; Curschellas, Evelyn; Altinkilic, Emre Murat; Naamneh Elzenaty, Rawda; Augsburger, Philipp; Du Toit, Therina; Voegel, Clarissa D; Breault, David T; Flück, Christa E; Pignatti, Emanuele (2024). Adrenal Abcg1 controls cholesterol flux and steroidogenesis. Endocrinology, 165(3) Oxford University Press 10.1210/endocr/bqae014
Kouri, Chrysanthi; Sommer, Grit; Martinez de LaPiscina, Idoia; Naamneh Elzenaty, Rawda; Tack, Lloyd J W; Cools, Martine; Ahmed, S Faisal; Flück, Christa E (2024). Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development. EBioMedicine, 99, p. 104941. Elsevier 10.1016/j.ebiom.2023.104941
Martinez de LaPiscina, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats, Núria; Grau, Gema; Rica, Itxaso; Rodriguez, Amaia; Vela, Amaia; Cortazar, Alicia; Alonso-Cerezo, Maria Concepción; Bahillo, Pilar; Bertholt, Laura; Esteva, Isabel; Castaño, Luis; Flück, Christa E (2023). Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PLoS ONE, 18(7), e0287515. Public Library of Science 10.1371/journal.pone.0287515
