Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

88 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Clinical and biochemical characterization of four patients with mutations in ECHS1.
Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR 2nd, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Ferdinandusse S, et al. Among authors: dishop mk. Orphanet J Rare Dis. 2015 Jun 18;10:79. doi: 10.1186/s13023-015-0290-1. Orphanet J Rare Dis. 2015. PMID: 26081110 Free PMC article.
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.
MUC5B expression and location in surfactant protein C mutations in children.
Liptzin DR, Watson AM, Murphy E, Kroehl ME, Dishop MK, Galambos C, Evans CM, Schwarz MI, Deterding RR, Schwartz DA. Liptzin DR, et al. Among authors: dishop mk. Pediatr Pulmonol. 2015 Dec;50(12):1270-6. doi: 10.1002/ppul.23180. Epub 2015 Apr 7. Pediatr Pulmonol. 2015. PMID: 25858779 Free PMC article.
Flip-flop lung. An unusual etiology of bronchiectasis.
Liptzin DR, Fan LL, Stillwell PC, Dannull KA, Fadell MF, Partrick DA, Dishop MK. Liptzin DR, et al. Among authors: dishop mk. Am J Respir Crit Care Med. 2014 Oct 15;190(8):e29. doi: 10.1164/rccm.201403-0533IM. Am J Respir Crit Care Med. 2014. PMID: 25317474 Free PMC article. No abstract available.
Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.
Arıkan-Ayyıldız Z, Caglayan-Sozmen S, Isık S, Deterding R, Dishop MK, Couderc R, Epaud R, Louha M, Uzuner N. Arıkan-Ayyıldız Z, et al. Among authors: dishop mk. Pediatr Pulmonol. 2014 Mar;49(3):E112-5. doi: 10.1002/ppul.22976. Epub 2013 Dec 17. Pediatr Pulmonol. 2014. PMID: 24347240
88 results