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Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations.
Kasi AS, Li H, Jurgensen TJ, Guglani L, Keens TG, Perez IA. Kasi AS, et al. Among authors: guglani l. J Clin Sleep Med. 2021 Oct 1;17(10):2049-2055. doi: 10.5664/jcsm.9370. J Clin Sleep Med. 2021. PMID: 33983112 Free PMC article.
The type of NPARM and their respective location on the PHOX2B gene may play a critical role in the severity of phenotypes displayed by each patient. CITATION: Kasi AS, Li H, Jurgensen TJ, Guglani L, Keens TG, Perez IA. Variable phenotypes in congenital central hypov …
The type of NPARM and their respective location on the PHOX2B gene may play a critical role in the severity of phenotypes displayed by each …
Macrophage PD-1 associates with neutrophilia and reduced bacterial killing in early cystic fibrosis airway disease.
Margaroli C, Horati H, Garratt LW, Giacalone VD, Schofield C, Dittrich AS, Rosenow T, Dobosh BS, Lim HS, Frey DL, Veltman M, Silva GL, Brown MR, Schultz C, Tiddens HAWM, Ranganathan S, Chandler JD, Qiu P, Peng L, Scholte BJ, Mall MA, Kicic A, Guglani L, Stick SM, Janssens HM, Tirouvanziam R. Margaroli C, et al. Among authors: guglani l. J Cyst Fibros. 2022 Nov;21(6):967-976. doi: 10.1016/j.jcf.2022.06.001. Epub 2022 Jun 19. J Cyst Fibros. 2022. PMID: 35732550 Free article.
69 results