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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: klee d. 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.
Positionspapier der DRG, DGNR, GPR, DeGIR, ÖRG und DGP zur Nutzung klinischer Daten für wissenschaftliche Zwecke.
Kuhl C, Walter P, Zimmer C, Mentzel HJ, Reimer P, Hausegger KA, Baretton G, Hoffmann RT, Heindel W, Düber C, Uder M, Nikolaou K, Antoch G; Vorstand der Deutschen Röntgengesellschaft e. V. (DRG):; Vorstand der Deutschen Gesellschaft für Neuroradiologie e. V. (DGNR):; Vorstand der Gesellschaft für Pädiatrische Radiologie e. V. (GPR):; Vorstand der Deutschen Gesellschaft für Interventionelle Radiologie und Minimalinvasive Therapie (DeGIR):; Präsidium der Österreichischen Röntgengesellschaft (ÖRG):; Vorstand der Deutschen Gesellschaft für Pathologie e. V. (DGP):; Konferenz der Lehrstuhlinhaber für Radiologie e. V.:. Kuhl C, et al. Rofo. 2021 Apr;193(4):381-387. doi: 10.1055/a-1352-9747. Epub 2021 Feb 2. Rofo. 2021. PMID: 33530119 Free article. German. No abstract available.
Cystic renal dysplasia as a leading sign of inherited metabolic disease.
Distelmaier F, Vogel M, Spiekerkötter U, Gempel K, Klee D, Braunstein S, Groneck HP, Mayatepek E, Wendel U, Schwahn B. Distelmaier F, et al. Among authors: klee d. Pediatr Nephrol. 2007 Dec;22(12):2119-24. doi: 10.1007/s00467-007-0536-9. Epub 2007 Jul 19. Pediatr Nephrol. 2007. PMID: 17638024
162 results