المؤلفون: Werfel, Lina, Martens, Helge, Hennies, Imke, Gjerstad, Ann Christin, Fröde, Kerstin, altarescu, gheona, Valenzuela, Irene

المساهمون: Institut Català de la Salut, Werfel L Department of Human Genetics, Hannover Medical School, Hannover, Germany. Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany. Martens H Department of Human Genetics, Hannover Medical School, Hannover, Germany. Hennies I, Fröde K Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany. Gjerstad AC Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway. Altarescu G Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel. Valenzuela Palafoll I Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Anomalies cromosòmiques, Infants, Ronyons - Malalties - Diagnòstic, Aparell genitourinari - Malaties - Diagnòstic, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Urogenital Abnormalities, DISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Renal Insufficiency::Renal Insufficiency, Chronic::Kidney Failure, Chronic, NAMED GROUPS::Persons::Age Groups::Infant, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::anomalías urogenitales, ENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::insuficiencia renal::insuficiencia renal crónica::fallo renal crónico, DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::lactante, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación

وصف الملف: application/pdf

العلاقة: Kidney International Reports;8(11); https://doi.org/10.1016/j.ekir.2023.08.008Test; Werfel L, Martens H, Hennies I, Gjerstad AC, Fröde K, Altarescu G, et al. Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life. Kidney Int Reports. 2023 Nov;8(11):2439–57.; https://hdl.handle.net/11351/10741Test; 001109004400001

الإتاحة: https://doi.org/10.1016/j.ekir.2023.08.008Test
https://hdl.handle.net/11351/10741Test

المؤلفون: Gjerstad, Ann Christin, Skrunes, Rannveig, Tøndel, Camilla, Åsberg, Anders, Leh, Sabine, Klingenberg, Claus Andreas, Døllner, Henrik, Hammarström, Clara Louise, Bjerre, Anna Kristina

العلاقة: Pediatric nephrology (Berlin, West); Gjerstad AC, Skrunes R, Tøndel C, Åsberg A, Leh S, Klingenberg C, Døllner H, Hammarström CL, Bjerre AK. Kidney biopsy diagnosis in childhood in the Norwegian Kidney Biopsy Registry and the long-term risk of kidney replacement therapy: a 25-year follow-up. Pediatric nephrology (Berlin, West). 2022:1-8; FRIDAID 2045133; https://hdl.handle.net/10037/26918Test

الإتاحة: https://doi.org/10.1007/s00467-022-05706-yTest
https://hdl.handle.net/10037/26918Test

المؤلفون: Christians, Anne, Kesdiren, Esra, Hennies, Imke, Hofmann, Alejandro, Trowe, Mark-Oliver, Brand, Frank, Martens, Helge, Gjerstad, Ann Christin, Gucev, Zoran, Zirngibl, Matthias, Geffers, Robert, Seeman, Tomáš, Billing, Heiko, Bjerre, Anna, Tasic, Velibor, Kispert, Andreas, Ure, Benno, Haffner, Dieter, Dingemann, Jens, Weber, Ruthild G.

المساهمون: Deutsche Forschungsgemeinschaft, Medizinische Hochschule Hannover (MHH)

المصدر: Human Genetics ; volume 142, issue 1, page 73-88 ; ISSN 0340-6717 1432-1203

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s00439-022-02481-6Test

المؤلفون: Martens, Helge, Hennies, Imke, Getwan, Maike, Christians, Anne, Weiss, Anna-Carina, Brand, Frank, Gjerstad, Ann Christin, Christians, Arne, Gucev, Zoran, Geffers, Robert, Seeman, Tomáš, Kispert, Andreas, Tasic, Velibor, Bjerre, Anna, Lienkamp, Soeren S., Haffner, Dieter, Weber, Ruthild

المصدر: http://lobid.org/resources/99370671030206441Test#!, 28(12):1681-1693.

مصطلحات موضوعية: Heterozygote [MeSH], Mutation, Cell Line [MeSH], Medical genetics, Urogenital Abnormalities/pathology [MeSH], Genetics research, Infant [MeSH], Male [MeSH], Kidney Tubules/abnormalities [MeSH], Growth Differentiation Factor 6/genetics [MeSH], Child [MeSH], Adolescent [MeSH], Female [MeSH], Mutation [MeSH], Development, Adult [MeSH], Humans [MeSH], Animals [MeSH], Vesico-Ureteral Reflux/genetics [MeSH], Vesico-Ureteral Reflux/pathology [MeSH], Mice [MeSH], Article, Xenopus [MeSH], Growth Differentiation Factor 6/metabolism [MeSH], Urogenital Abnormalities/genetics [MeSH], Kidney Tubules/metabolism [MeSH], Child, Preschool [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6471970Test; https://doi.org/10.1038/s41431-020-0678-9Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784874Test/

الإتاحة: https://doi.org/10.1038/s41431-020-0678-9Test
https://repository.publisso.de/resource/frl:6471970Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784874Test/

المؤلفون: Ariceta, Gema, Arbeiter, Klaus, Marlais, Matko, De Zan, Francesca, Becherucci, Francesca, Besouw, Martine, Burgmaier, Kathrin, Morin, Denis, Dolezel, Zdenek, DURSUN, İSMAİL, Espinosa, Laura, Gjerstad, Ann Christin, Gondra, Leire, Harmer, Matthew, Konrad, Martin, Lemoine, Sandrine, Madariaga, Leire, Marzuillo, Pierluigi, Meneghesso, Davide, Papizh, Svetlana, Printza, Nikoleta, Schlingmann, Karl, Trepiccione, Francesco, Tse, Yincent, Tsygin, Alexey, Wasilewska, Anna, Weitz, Marcus, Zieg, Jakub, Emma, Francesco, Bockenhauer, Detlef

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______9447::df8fa06a9951a8e4b19b12e9743b0b58Test
https://avesis.erciyes.edu.tr/publication/details/76eb90a4-3337-4af1-94ca-07f8cd9ac47b/oaiTest

المؤلفون: Gjerstad, Ann Christin, Storrösten, Olav Trond, Bakkheim, Egil, Handeland, Kai, Bangstad, Hans-Jacob

المصدر: Tidsskrift for Den Norske Laegeforening. 136(16):1366

المؤلفون: Gjerstad, Ann Christin¹ ancgje@ous-hf.no, Skrunes, Rannveig^2,3, Tøndel, Camilla^4,5, Åsberg, Anders^6,7,8, Leh, Sabine^3,9, Klingenberg, Claus^10,11, Døllner, Henrik^12,13, Hammarstrøm, Clara¹⁴, Bjerre, Anna Kristina^1,15

المصدر: Pediatric Nephrology. Apr2023, Vol. 38 Issue 4, p1249-1256. 8p. 3 Charts, 2 Graphs.

مصطلحات موضوعية: *KIDNEY disease diagnosis, *THERAPEUTICS, *PATIENT aftercare, *REPORTING of diseases, *BIOPSY, *NEPHRITIS, *RENAL replacement therapy, *RETROSPECTIVE studies, *RISK assessment, *DESCRIPTIVE statistics, *RESEARCH funding, *GLOMERULONEPHRITIS, *CYSTIC kidney disease, *LONGITUDINAL method, *SECONDARY analysis, *FOCAL segmental glomerulosclerosis, *URINARY calculi, *DISEASE complications, *CHILDREN, CHRONIC kidney failure complications

مصطلحات جغرافية: NORWAY

المؤلفون: Lemoine, Sandrine, Marzuillo, Pierluigi, Meneghesso, Davide, Papizh, Svetlana, Printza, Nikoleta, Marlais, Matko, Harmer, Matthew, De Zan, Francesca, Schlingmann, Karl, Trepiccione, Francesco, Tse, Yincent, Tsygin, Alexey, Wasilewska, Anna, Weitz, Marcus, Zieg, Jakub, Emma, Francesco, Bockenhauer, Detlef, Gjerstad, Ann Christin, Espinosa, Laura, DURSUN, İSMAİL, Dolezel, Zdenek, Morin, Denis, Burgmaier, Kathrin, Besouw, Martine, Becherucci, Francesca, Ariceta, Gema, Gondra, Leire, Arbeiter, Klaus, Konrad, Martin, Madariaga, Leire

العلاقة: 76eb90a4-3337-4af1-94ca-07f8cd9ac47b; https://avesis.erciyes.edu.tr/publication/details/76eb90a4-3337-4af1-94ca-07f8cd9ac47b/oaiTest

الإتاحة: https://avesis.erciyes.edu.tr/publication/details/76eb90a4-3337-4af1-94ca-07f8cd9ac47b/oaiTest

المؤلفون: Christians, Anne, Kesdiren, Esra, Hennies, Imke, Hofmann, Alejandro, Trowe, Mark-Oliver, Brand, Frank, Martens, Helge, Gjerstad, Ann Christin, Gucev, Zoran, Zirngibl, Matthias, Geffers, Robert, Seeman, Tomáš, Billing, Heiko, Bjerre, Anna, Tasic, Velibor, Kispert, Andreas, Ure, Benno, Haffner, Dieter, Dingemann, Jens, Weber, Ruthild G.

المصدر: Human Genetics; Jan2023, Vol. 142 Issue 1, p73-88, 16p

مصطلحات موضوعية: GENETIC variation, GENITALIA, MISSENSE mutation, URINARY organs, WNT signal transduction, ANUS, FAMILIAL spastic paraplegia

المؤلفون: ADEN, PETRA, GJERSTAD, ANN CHRISTIN, SKARI, HANS, LIE, ANINE, BJERRE, ANNA

المصدر: Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening; 2/15/2020, Vol. 140 Issue 3, p260-265, 6p