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Page 1
Evolution of viral variants in remdesivir-treated and untreated SARS-CoV-2-infected pediatrics patients.
Boshier FAT, Pang J, Penner J, Parker M, Alders N, Bamford A, Grandjean L, Grunewald S, Hatcher J, Best T, Dalton C, Bynoe PD, Frauenfelder C, Köeglmeier J, Myerson P, Roy S, Williams R, de Silva TI, Goldstein RA, Breuer J; COVID-19 Genomics UK (COG-UK) consortium. Boshier FAT, et al. Among authors: koeglmeier j. J Med Virol. 2022 Jan;94(1):161-172. doi: 10.1002/jmv.27285. Epub 2021 Sep 4. J Med Virol. 2022. PMID: 34415583 Free PMC article.
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Aldrian D, Vogel GF, Frey TK, Ayyıldız Civan H, Aksu AÜ, Avitzur Y, Ramos Boluda E, Çakır M, Demir AM, Deppisch C, Duba HC, Düker G, Gerner P, Hertecant J, Hornová J, Kathemann S, Koeglmeier J, Koutroumpa A, Lanzersdorfer R, Lev-Tzion R, Lima R, Mansour S, Meissl M, Melek J, Miqdady M, Montoya JH, Posovszky C, Rachman Y, Siahanidou T, Tabbers M, Uhlig HH, Ünal S, Wirth S, Ruemmele FM, Hess MW, Huber LA, Müller T, Sturm E, Janecke AR. Aldrian D, et al. Among authors: koeglmeier j. J Clin Med. 2021 Jan 28;10(3):481. doi: 10.3390/jcm10030481. J Clin Med. 2021. PMID: 33525641 Free PMC article.
Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series.
Isoldi S, Belsha D, Yeop I, Uc A, Zevit N, Mamula P, Loizides AM, Tabbers M, Cameron D, Day AS, Abu-El-Haija M, Chongsrisawat V, Briars G, Lindley KJ, Koeglmeier J, Shah N, Harper J, Syed SB, Thomson M. Isoldi S, et al. Among authors: koeglmeier j. Dig Liver Dis. 2019 Nov;51(11):1537-1546. doi: 10.1016/j.dld.2019.04.020. Epub 2019 Jul 26. Dig Liver Dis. 2019. PMID: 31358484
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Balogh E, et al. Among authors: koeglmeier j. Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17. Proc Natl Acad Sci U S A. 2020. PMID: 32554502 Free PMC article.