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Page 1
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. Reijnders MRF, et al. Among authors: lohmeier k. Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057673 Free article.
Amphotericin B and pulmonary surfactant.
Griese M, Schams A, Lohmeier KP. Griese M, et al. Among authors: lohmeier kp. Eur J Med Res. 1998 Aug 18;3(8):383-6. Eur J Med Res. 1998. PMID: 9707520
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H. Kremer LS, et al. Among authors: lohmeier k. Am J Hum Genet. 2016 Oct 6;99(4):894-902. doi: 10.1016/j.ajhg.2016.07.018. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616477 Free PMC article.
Assessment of Retinopathy of Prematurity Regression and Reactivation Using an Artificial Intelligence-Based Vascular Severity Score.
Eilts SK, Pfeil JM, Poschkamp B, Krohne TU, Eter N, Barth T, Guthoff R, Lagrèze W, Grundel M, Bründer MC, Busch M, Kalpathy-Cramer J, Chiang MF, Chan RVP, Coyner AS, Ostmo S, Campbell JP, Stahl A; Comparing Alternative Ranibizumab Dosages for Safety and Efficacy in Retinopathy of Prematurity (CARE-ROP) Study Group. Eilts SK, et al. JAMA Netw Open. 2023 Jan 3;6(1):e2251512. doi: 10.1001/jamanetworkopen.2022.51512. JAMA Netw Open. 2023. PMID: 36656578 Free PMC article. Clinical Trial.
Cerebral metabolic changes in biotinidase deficiency.
Schürmann M, Engelbrecht V, Lohmeier K, Lenard HG, Wendel U, Gärtner J. Schürmann M, et al. Among authors: lohmeier k. J Inherit Metab Dis. 1997 Nov;20(6):755-60. doi: 10.1023/a:1005307415289. J Inherit Metab Dis. 1997. PMID: 9427142
18 results