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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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2022Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings., Front Endocrinol (Lausanne) 2022 ; 13(): 810782.
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2021Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case., Eur J Med Genet 2021 Sep; 64(9): 104285.
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2021Can leukocytospermia predict prostate cancer via its effects on mitochondrial DNA?, Andrologia 2021 Sep; 53(8): e14129.
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2021Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings., Sex Dev 2021 Mar; (): 1-6.
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2021Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37., Sex Dev 2021 ; 15(4): 244-252.
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2021Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism., Front Pediatr 2021 ; 9(): 641397.
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2020Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene., Proc. Natl. Acad. Sci. U.S.A. 2020 Jun; 117(24): 13680-13688.
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2019Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome, Genet. Med. 2019 Jul;.
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2019The TALE homeodomain of PBX1 is involved in human primary testis-determination, Hum. Mutat. 2019 May;.
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