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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: bashamboo a. Nat Commun. 2023 Jun 15;14(1):3566. doi: 10.1038/s41467-023-39372-x. Nat Commun. 2023. PMID: 37322043 Free PMC article. No abstract available.
Genetic disorders of sex differentiation.
McElreavey K, Bashamboo A. McElreavey K, et al. Among authors: bashamboo a. Adv Exp Med Biol. 2011;707:91-9. doi: 10.1007/978-1-4419-8002-1_20. Adv Exp Med Biol. 2011. PMID: 21691962 No abstract available.
Identification of a missense variant in CLDN2 in obstructive azoospermia.
Askari M, Karamzadeh R, Ansari-Pour N, Karimi-Jafari MH, Almadani N, Sadighi Gilani MA, Gourabi H, Vosough Taghi Dizaj A, Mohseni Meybodi A, Sadeghi M, Bashamboo A, McElreavey K, Totonchi M. Askari M, et al. Among authors: bashamboo a. J Hum Genet. 2019 Oct;64(10):1023-1032. doi: 10.1038/s10038-019-0642-0. Epub 2019 Jul 18. J Hum Genet. 2019. PMID: 31320686
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.
Tantawy S, Mazen I, Soliman H, Anwar G, Atef A, El-Gammal M, El-Kotoury A, Mekkawy M, Torky A, Rudolf A, Schrumpf P, Grüters A, Krude H, Dumargne MC, Astudillo R, Bashamboo A, Biebermann H, Köhler B. Tantawy S, et al. Among authors: bashamboo a. Eur J Endocrinol. 2014 Apr 10;170(5):759-67. doi: 10.1530/EJE-13-0965. Print 2014 May. Eur J Endocrinol. 2014. PMID: 24591553
102 results