المؤلفون: Chen-Han Wilfred Wu, Tze Y. Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Luca Schierbaum, Sophia Schneider, Nina Mann, Dervla M. Connaughton, Makiko Nakayama, Amelie T. van der Ven, Rufeng Dai, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Natasa Stajic, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan M. Fathy, Danko Milosevic, Daniel Turudic, Muna Al Saffar, Hazem S. Awad, Loai A. Eid, Aravind Ramanathan, Prabha Senguttuvan, Shrikant M. Mane, Richard S. Lee, Stuart B. Bauer, Weining Lu, Alina C. Hilger, Velibor Tasic, Shirlee Shril, Simone Sanna-Cherchi, Friedhelm Hildebrandt

المصدر: European Urology Open Science, Vol 44, Iss , Pp 106-112 (2022)

مصطلحات موضوعية: Congenital anomalies of the kidney and urinary tract, Vesicoureteral reflux, Copy number variation, Whole-exome sequencing, Monogenic disease causation, Renal developmental, Diseases of the genitourinary system. Urology, RC870-923, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666168322008746; https://doaj.org/toc/2666-1683

URL الوصول: https://doaj.org/article/3efb0bd1ab7841249ffc6b6938766552

المؤلفون: Loes F. M. van der Zanden, Carlo Maj, Oleg Borisov, Iris A. L. M. van Rooij, Josine S. L. T. Quaedackers, Martijn Steffens, Luca Schierbaum, Sophia Schneider, Lea Waffenschmidt, Lambertus A. L. M. Kiemeney, Liesbeth L. L. de Wall, Stefanie Heilmann, Aybike Hofmann, Jan Gehlen, Johannes Schumacher, Maria Szczepanska, Katarzyna Taranta-Janusz, Pawel Kroll, Grazyna Krzemien, Agnieszka Szmigielska, Michiel F. Schreuder, Stefanie Weber, Marcin Zaniew, Nel Roeleveld, Heiko Reutter, Wout F. J. Feitz, Alina C. Hilger

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: genome wide association study, lower urinary tract obstruction, obstructive uropathy, posterior urethral valves, PCDH9, SALL1, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.988374/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/2b86e5686ed44e1c9b5c76e66ebae75d

المؤلفون: Sophia Schneider, Luca Schierbaum, Wessel A. C. Burger, Steve Seltzsam, Chunyan Wang, Bixia Zheng, Chen‐Han Wilfred Wu, Makiko Nakayama, Dervla M. Connaughton, Nina Mann, Mohamed A. Shalaby, Jameela A. Kari, Sherif ElDesoky, Velibor Tasic, Loai A. Eid, Shirlee Shril, David M. Thal, Friedhelm Hildebrandt

المصدر: American Journal of Medical Genetics Part A.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::79c44c8c809f93aa660e9410e8768f5e
https://doi.org/10.1002/ajmg.a.63241

المؤلفون: Caroline M. Kolvenbach, Bixia Zheng, Lea M. Merz, Nils D. Mertens, Bshara Mansour, Chunyan Wang, Steve Seltzsam, Sophia Schneider, Luca Schierbaum, Dalia Pantel, Jing Chen, Amelie T. van der Ven, Jibril O. Bello, Shirlee Shril, Friedhelm Hildebrandt

المصدر: Am J Med Genet A

مصطلحات موضوعية: Genetics, Genetics (clinical), Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72e2322d46f78cf232091361de0342de
https://europepmc.org/articles/PMC10081948/

المؤلفون: Verena Klämbt, Florian Buerger, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth, Anna-Carina Weiss, Tobias Sieckmann, Ethan Lai, Dervla M. Connaughton, Steve Seltzsam, Nina Mann, Amar J. Majmundar, Chen-Han W. Wu, Ana C. Onuchic-Whitford, Shirlee Shril, Sophia Schneider, Luca Schierbaum, Rufeng Dai, Mir Reza Bekheirnia, Marieke Joosten, Omer Shlomovitz, Asaf Vivante, Ehud Banne, Shrikant Mane, Richard P. Lifton, Karin M. Kirschner, Andreas Kispert, Georg Rosenberger, Klaus-Dieter Fischer, Soeren S. Lienkamp, Mirjam M.P. Zegers, Friedhelm Hildebrandt

المصدر: Journal of the American Society of Nephrology, 34, 2, pp. 273-290
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Journal of the American Society of Nephrology, 34, 273-290

مصطلحات موضوعية: urinary tract, ALPHA-PIX, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], MUTATIONS, Biology and Life Sciences, General Medicine, monogenic kidney disease, REGULATES BRANCHING MORPHOGENESIS, SEQUENCE, pediatric, All institutes and research themes of the Radboud University Medical Center, Nephrology, NUCLEOTIDE EXCHANGE FACTORS, EXTRACELLULAR-MATRIX, INBRED MOUSE, INTEGRIN-LINKED KINASE, PROTEIN NEPHRONECTIN, MDCK CELL-CULTURE, development, CAKUT

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4439761a65e0ca2ac0685948bb12003
https://repository.ubn.ru.nl/handle/2066/290858

المؤلفون: Chunyan Wang, Steve Seltzsam, Bixia Zheng, Chen‐Han Wilfred Wu, Camille Nicolas‐Frank, Kirollos Yousef, Kit Sing Au, Nina Mann, Dalia Pantel, Sophia Schneider, Luca Schierbaum, Thomas M. Kitzler, Dervla M. Connaughton, Youying Mao, Rufeng Dai, Makiko Nakayama, Jameela A. Kari, Sherif El Desoky, Mohammed Shalaby, Loai A. Eid, Hazem S. Awad, Velibor Tasic, Shrikant M. Mane, Richard P. Lifton, Michelle A. Baum, Shirlee Shril, Carlos R. Estrada, Friedhelm Hildebrandt

المصدر: Am J Med Genet A

مصطلحات موضوعية: Disease Models, Animal, Mice, Exome Sequencing, Genetics, Animals, Humans, Exome, Spinal Dysraphism, Article, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd15230f58fefe06390714cb145d395d
https://doi.org/10.1002/ajmg.a.62644

المؤلفون: Caroline M, Kolvenbach, Tim, Felger, Luca, Schierbaum, Isabelle, Thiffault, Tomi, Pastinen, Maria, Szczepańska, Marcin, Zaniew, Piotr, Adamczyk, Allan, Bayat, Öznur, Yilmaz, Tobias T, Lindenberg, Holger, Thiele, Friedhelm, Hildebrandt, Katrin, Hinderhofer, Ute, Moog, Alina C, Hilger, Bonnie, Sullivan, Lauren, Bartik, Piotr, Gnyś, Phillip, Grote, Benjamin, Odermatt, Heiko M, Reutter, Gabriel C, Dworschak

المصدر: Journal of medical genetics.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::124f4aad97359a3afa8a9c9cd35ae6de
https://pubmed.ncbi.nlm.nih.gov/36379543

المؤلفون: Julia Fabian, Gabriel C. Dworschak, Lea Waffenschmidt, Luca Schierbaum, Charlotte Bendixen, Stefanie Heilmann-Heimbach, Sugirthan Sivalingam, Andreas Buness, Nicole Schwarzer, Thomas M. Boemers, Eberhard Schmiedeke, Jörg Neser, Johannes Leonhardt, Ferdinand Kosch, Sandra Weih, Helen Maya Gielen, Stuart Hosie, Carmen Kabs, Markus Palta, Stefanie Märzheuser, Lena Marie Bode, Martin Lacher, Frank-Mattias Schäfer, Maximilian Stehr, Christian Knorr, Benno Ure, Katharina Kleine, Udo Rolle, Marcin Zaniew, Grote Phillip, Nadine Zwink, Ekkehart Jenetzky, Heiko Reutter, Alina C. Hilger

المصدر: European journal of human genetics : EJHG. 31(1)

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db296e1835869d922fbd37aa77148da3
https://pubmed.ncbi.nlm.nih.gov/36319675

المؤلفون: Nina Mann, Stuart B. Bauer, Chunyan Wang, Velibor Tasic, Shrikant Mane, Dervla M. Connaughton, Chen-Han Wilfred Wu, Luca Schierbaum, Natasa Stajic, Friedhelm Hildebrandt, Bixia Zheng, Makiko Nakayama, Sophia Schneider, Steve Seltzsam, Rufeng Dai, Hyun Joo Nam, Shirlee Shril

المصدر: Nephrol Dial Transplant

مصطلحات موضوعية: Genetics, Forkhead Box Protein L2, Vesico-Ureteral Reflux, Transplantation, Candidate gene, business.industry, Horseshoe kidney, medicine.disease, Kidney, Nephrology, Urogenital Abnormalities, Exome Sequencing, medicine, Hepatocyte Nuclear Factor 3-beta, Missense mutation, Gene family, Humans, FOXA3, Original Article, FOXA2, business, Urinary Tract, Gene, Exome sequencing, Hepatocyte Nuclear Factor 3-gamma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c068896b28cd558f83882cf639fe18bc
https://europepmc.org/articles/PMC9755999/

المؤلفون: Rufeng Dai, Shrikant Mane, Marcello Scala, Shirlee Shril, Alina C. Hilger, Dervla M. Connaughton, Franziska Kause, Heidi L. Rehm, Bernd Hoppe, Gianluca Piatelli, Stefanie Märzheuser, Makiko Nakayama, Caroline M. Kolvenbach, Richard P. Lifton, Vincenzo Nigro, Luca Schierbaum, Thomas M. Kitzler, Friedhelm Hildebrandt, Eberhard Schmiedeke, Gabriel C. Dworschak, Sophia Schneider, Heiko Reutter, Annalaura Torella, Valeria Capra, Amelie T. van der Ven, Ronen Schneider, Nina Mann, Andrea Accogli

المساهمون: Kolvenbach, C. M., van der Ven, A. T., Kause, F., Shril, S., Scala, M., Connaughton, D. M., Mann, N., Nakayama, M., Dai, R., Kitzler, T. M., Schneider, R., Schierbaum, L., Schneider, S., Accogli, A., Torella, A., Piatelli, G., Nigro, V., Capra, V., Hoppe, B., Marzheuser, S., Schmiedeke, E., Rehm, H. L., Mane, S., Lifton, R. P., Dworschak, G. C., Hilger, A. C., Reutter, H., Hildebrandt, F.

المصدر: Am J Med Genet A

مصطلحات موضوعية: Male, medicine.medical_specialty, Candidate gene, Heart Diseases, Tracheoesophageal fistula, Kidney, digestive system, Gastroenterology, Article, VATER/VACTERL association, 03 medical and health sciences, anorectal malformation (ARM), monogenic disease causation, Genes, X-Linked, Internal medicine, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, HSP90 Heat-Shock Proteins, Exome, Esophageal Atresia, Genetics (clinical), Exome sequencing, Genetic Association Studies, 030304 developmental biology, Phenocopy, Hemizygote, Homeodomain Proteins, 0303 health sciences, business.industry, exome sequencing (WES), 030305 genetics & heredity, Receptors, Interleukin, medicine.disease, VACTERL association, Phenotype, digestive system diseases, Anorectal Malformations, 3. Good health, DNA-Binding Proteins, Cytoskeletal Proteins, congenital anomalies of the kidneys and urinary tract (CAKUT), HOXD13, Female, business, Tracheoesophageal Fistula, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72bd4d2d86317627cfbf9ccf0ecc14ba
https://europepmc.org/articles/PMC8595524/