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Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Malbos M, Wakeling E, Gautier T, Boespflug-Tanguy O, Busby L, Taylor-Miller T, Dudoignon B, Bokov P, Govin J, Grisval M, Rega A, Mourot De Rougemont MG, Aubriot-Lorton MH, Darmency V, Bensignor C, Houzel A, Huet F, Denommé-Pichon AS, Delanne J, Tran Mau-Them F, Bruel AL, Safraou H, Nambot S, Garde A, Philippe C, Duffourd Y, Vitobello A, Faivre L, Thauvin-Robinet C. Malbos M, et al. Among authors: bokov p. Clin Genet. 2024 May;105(5):555-560. doi: 10.1111/cge.14485. Epub 2024 Jan 29. Clin Genet. 2024. PMID: 38287449
Lumen areas and homothety factor influence airway resistance in COPD.
Bokov P, Mauroy B, Revel MP, Brun PA, Peiffer C, Daniel C, Nay MM, Mahut B, Delclaux C. Bokov P, et al. Respir Physiol Neurobiol. 2010 Aug 31;173(1):1-10. doi: 10.1016/j.resp.2010.05.011. Epub 2010 May 15. Respir Physiol Neurobiol. 2010. PMID: 20478416
77 results