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Page 1
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Lessel I, Baresic A, Chinn IK, May J, Goenka A, Chandler KE, Posey JE, Afenjar A, Averdunk L, Bedeschi MF, Besnard T, Brager R, Brick L, Brugger M, Brunet T, Byrne S, Calle-Martín O, Capra V, Cardenas P, Chappé C, Chong HJ, Cogne B, Conboy E, Cope H, Courtin T, Deb W, Dilena R, Dubourg C, Elgizouli M, Fernandes E, Fitzgerald KK, Gangi S, George-Abraham JK, Gucsavas-Calikoglu M, Haack TB, Hadonou M, Hanker B, Hüning I, Iascone M, Isidor B, Järvelä I, Jin JJ, Jorge AAL, Josifova D, Kalinauskiene R, Kamsteeg EJ, Keren B, Kessler E, Kölbel H, Kozenko M, Kubisch C, Kuechler A, Leal SM, Leppälä J, Luu SM, Lyon GJ, Madan-Khetarpal S, Mancardi M, Marchi E, Mehta L, Menendez B, Morel CF, Harasink SM, Nevay DL, Nigro V, Odent S, Oegema R, Pappas J, Pastore MT, Perilla-Young Y, Platzer K, Powell-Hamilton N, Rabin R, Rekab A, Rezende RC, Robert L, Romano F, Scala M, Poths K, Schrauwen I, Sebastian J, Short J, Sidlow R, Sullivan J, Szakszon K, Tan QKG; Undiagnosed Diseases Network; Wagner M, Wieczorek D, Yuan B, Maeding N, Strunk D, Begtrup A, Banka S, Lupski JR, Tolosa E, Lessel D. Lessel I, et al. Among authors: leal sm. Am J Hum Genet. 2025 Jan 3:S0002-9297(24)00454-3. doi: 10.1016/j.ajhg.2024.12.012. Online ahead of print. Am J Hum Genet. 2025. PMID: 39798569 Free article.
Updates in Cryptococcosis.
Jani A, Reigler AN, Leal SM Jr, McCarty TP. Jani A, et al. Among authors: leal sm jr. Infect Dis Clin North Am. 2024 Dec 21:S0891-5520(24)00086-2. doi: 10.1016/j.idc.2024.11.011. Online ahead of print. Infect Dis Clin North Am. 2024. PMID: 39710555 Review.
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.
Yalcouyé A, Schrauwen I, Traoré O, Bamba S, Aboagye ET, Acharya A, Bharadwaj T, Latanich R, Esoh K, Fortes-Lima CA, de Kock C, Jonas M, Maiga ADB, Cissé CAK, Sangaré MA, Guinto CO, Landouré G, Leal SM, Wonkam A. Yalcouyé A, et al. Among authors: leal sm. HGG Adv. 2025 Jan 9;6(1):100391. doi: 10.1016/j.xhgg.2024.100391. Epub 2024 Dec 10. HGG Adv. 2025. PMID: 39663698 Free PMC article.
873 results