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2024A conserved NR5A1-responsive enhancer regulates SRY in testis-determination., Nat Commun 2024 Mar; 15(1): 2796.
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2023Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis., J Clin Res Pediatr Endocrinol 2023 Feb; 15(1): 25-34.
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2023Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development., Reprod Biol Endocrinol 2023 Jan; 21(1): 2.
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2023In vitro cellular reprogramming to model gonad development and its disorders., Sci Adv 2023 Jan; 9(1): eabn9793.
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2023Monogenic Forms of DSD: An Update., Horm Res Paediatr 2023 ; 96(2): 144-168.
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2022Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family., J Pediatr Endocrinol Metab 2022 Sep; 35(9): 1215-1221.
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2022DHX37 and 46,XY DSD: A New Ribosomopathy?, Sex Dev 2022 ; 16(2-3): 194-206.
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2022Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort., Front Genet 2022 ; 13(): 900574.
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2022Genetics of 46,XY gonadal dysgenesis., Best Pract Res Clin Endocrinol Metab 2022 Jan; 36(1): 101633.
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2022Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings., Front Endocrinol (Lausanne) 2022 ; 13(): 810782.
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