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A Long-Term Survivor With Alveolar Capillary Dysplasia.
Yost CE, Putnam AR, Dishop MK, Jorgensen LO, Wirkus PE, Day RW. Yost CE, et al. Among authors: dishop mk. JACC Case Rep. 2020 Jul 29;2(10):1492-1495. doi: 10.1016/j.jaccas.2020.05.055. eCollection 2020 Aug. JACC Case Rep. 2020. PMID: 34317003 Free PMC article.
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Perrier S, Gauquelin L, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez-Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G. Perrier S, et al. Among authors: dishop mk. Neurol Genet. 2020 May 11;6(3):e425. doi: 10.1212/NXG.0000000000000425. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32582862 Free PMC article.
Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study.
Sardón O, Torrent-Vernetta A, Rovira-Amigo S, Dishop MK, Ferreres JC, Navarro A, Corcuera P, Korta-Murua J, Peña PG, Pérez-Belmonte E, Villares A, Camats N, Fernández-Cancio M, Carrascosa A, Pérez-Yarza EG, Moreno-Galdó A. Sardón O, et al. Among authors: dishop mk. Pediatr Pulmonol. 2019 Jun;54(6):837-846. doi: 10.1002/ppul.24324. Epub 2019 Mar 25. Pediatr Pulmonol. 2019. PMID: 30912317
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Friederich MW, et al. Among authors: dishop mk. Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w. Nat Commun. 2018. PMID: 30283131 Free PMC article.
Pulmonary interstitial glycogenosis: Diagnostic evaluation and clinical course.
Liptzin DR, Baker CD, Darst JR, Weinman JP, Dishop MK, Galambos C, Brinton JT, Deterding RR. Liptzin DR, et al. Among authors: dishop mk. Pediatr Pulmonol. 2018 Dec;53(12):1651-1658. doi: 10.1002/ppul.24123. Epub 2018 Jul 18. Pediatr Pulmonol. 2018. PMID: 30019520 Free PMC article.
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