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Impact of smoking on biological treatment response in patients from the German Severe Asthma (GAN) Registry.
Stoshikj S, Biener L, Renner A, Bal C, Brugger J, Krall C, Milger K, Schulz C, Jandl M, Ehmann R, Schmidt O, Buhl R, Hamelmann E, Taube C, Korn S, Skowasch D, Idzko M. Stoshikj S, et al. J Allergy Clin Immunol Pract. 2025 Jan 10:S2213-2198(25)00046-7. doi: 10.1016/j.jaip.2025.01.005. Online ahead of print. J Allergy Clin Immunol Pract. 2025. PMID: 39800060 Free article.
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. 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.
RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G. Talarico M, et al. Genet Med. 2024 Dec 17:101347. doi: 10.1016/j.gim.2024.101347. Online ahead of print. Genet Med. 2024. PMID: 39707840 Free article.
2,363 results