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1Academic Journal
المؤلفون: König, JC, Karsay, R, Gerß, J, Schlingmann, KP, Dahmer-Heath, M, Telgmann, AK, Kollmann, S, Ariceta, G, Gillion, V, Bockenhauer, D, Bertholet-Thomas, A, Mastrangelo, A, Boyer, O, Lilien, M, Decramer, S, Schanstra, JP, Pohl, M, Schild, R, Weber, S, Hoefele, J, Drube, J, Cetiner, M, Hansen, M, Thumfart, J, Tönshoff, B, Habbig, S, Liebau, MC, Bald, M, Bergmann, C, Pennekamp, P, Konrad, M, Antczak, P, Birtel, J, Haffner, D, Illig, T, Kamp-Becker, I, Klopp, N, König, J, Nittel, C, Okorn, C, Omran, H, Pape, L, Schäfer, F, Schermer, B, Storf, H, Vasseur, J, Wohlgemuth, K, Ziegler, W, Gimpel, C, Göbel, J, Schlevogt, B
المصدر: Kidney International Reports (2022) (In press).
مصطلحات موضوعية: end-stage kidney disease, genetic variant severity, genotype-phenotype correlations, kidney survival, nephronophthisis, prognostic factors
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10154002/1/1-s2.0-S2468024922014371-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10154002/
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2Academic Journal
المؤلفون: König, Jens Christian, Karsay, Rebeka, Gerß, Joachim, Schlingmann, Karl-Peter, Dahmer-Heath, Mareike, Telgmann, Anna-Katharina, Ariceta Iraola, Gema
المساهمون: Institut Català de la Salut, König JC, Karsay R, Schlingmann KP, Dahmer-Heath M, Telgmann AK Department of General Pediatrics, University Children’s Hospital Münster, Münster, Germany. Gerß J Institute of Biostatistics and Clinical Research, University of Münster, Münster, Germany. Ariceta G Servei de Nefrologia Pediàtrica, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Scientia
مصطلحات موضوعية: Ronyons - Malalties - Aspectes genètics, Malalties rares - Aspectes genètics, Registres mèdics, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Abnormalities, Multiple::Ciliopathies, Other subheadings::Other subheadings::Other subheadings::/genetics, DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::anomalías múltiples::ciliopatías, Otros calificadores::Otros calificadores::Otros calificadores::/genética, ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::enfermedades raras, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros
وصف الملف: application/pdf
Relation: Kidney International Reports;7(9); https://doi.org/10.1016/j.ekir.2022.05.035; König JC, Karsay R, Gerß J, Schlingmann KP, Dahmer-Heath M, Telgmann AK, et al. Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis. Kidney Int Rep. 2022 Sep;7(9):2016–28.; https://hdl.handle.net/11351/8454; 000863107700010
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