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1دورية أكاديمية
المؤلفون: Katharina Lemberg, Nils D. Mertens, Kirollos Yousef, Ronen Schneider, Lea M. Merz, Bshara Mansour, Daanya Salmanullah, Caroline M. Kolvenbach, Ken Saida, Seyoung Yu, Selina Hölzel, Andrew Steinsapir, Kevin A. Goncalves, Camille Nicolas Frank, Gijs A. C. Franken, Shirlee Shril, Florian Buerger, Friedhelm Hildebrandt
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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المؤلفون: Danielle J. Owen, David FitzPatrick, Nina Mann, Stuart B. Bauer, Ilona Krey, Heather C Mefford, Jacob Zyskind, Roger Fick, Ana C. Onuchic-Whitford, Floor A. M. Duijkers, Etienne Coyaud, Simon E. Fisher, Juliann M. Savatt, Richard P. Lifton, Isabel Ottlewski, Amelie T. van der Ven, Peter J. Hulick, Nancy Rodig, Michelle A. Baum, Marielle Alders, Elysa J. Marco, Konrad Platzer, Ghaleb Daouk, Hadas Ityel, Eva H. Brilstra, Ian A. Glass, Heiko Reutter, Adda L. Graham-Paquin, Makiko Nakayama, Michael A. J. Ferguson, Amy Kolb, Weining Lu, Florian Buerger, Prabha Senguttuvan, Marcia Ferguson, Ronen Schneider, Isabelle Thiffault, Hila Milo Rasouly, Verena Klämbt, Tobias Bartolomaeus, Evan Chen, Mao Youying, Amar J. Majmundar, Jia Rao, Carrie Costin, Dina Ahram, Ali G. Gharavi, Lot Snijders Blok, Avram Z. Traum, Franziska Kause, Konstantin Deutsch, Arianna Vino, Dervla M. Connaughton, Antonie D. Kline, Deborah R. Stein, Daanya Salmanullah, Maxime Bouchard, Estelle M.N. Laurent, Audrey Squire, Daniel G. MacArthur, Kristen M. Laricchia, Asaf Vivante, Thomas M. Kitzler, Jonathan St-Germain, Brian Raught, Heidi L. Rehm, Ellen van Binsbergen, Chen Han Wilfred Wu, Caroline M. Kolvenbach, Monkol Lek, Selvin Kumar, Jing Chen, Mustafa K. Khokha, Ankana Daga, Hong Xu, Andrew D. Sharrocks, N. V. Shcherbakova, Simone Sanna-Cherchi, Inna S. Povolotskaya, Tze Y Lim, Johanna M. Rieke, Katrina M. Dipple, Gabriel C. Dworschak, Michael J. Somers, Tobias Hermle, Stefan Kohl, Steve Seltzsam, Victoria Y. Voinova, Shirlee Shril, Ingrid M. Wentzensen, Daw Yang Hwang, Velibor Tasic, Shrikant Mane, Jonathan Marquez, Friedhelm Hildebrandt, Rufeng Dai, Paulien A Terhal, Loai A. Eid, Thomas D. Challman
المساهمون: Boston Children's Hospital, Harvard Medical School [Boston] (HMS), University of Western Ontario (UWO), Fudan University [Shanghai], University of Manchester [Manchester], Yale University [New Haven], McGill University = Université McGill [Montréal, Canada], Protéomique, Réponse Inflammatoire, Spectrométrie de Masse (PRISM) - U 1192 (PRISM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), University Health Network, University of Toronto, Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, Donders Institute for Brain, Cognition and Behaviour, Radboud University [Nijmegen], Radboud University Medical Center [Nijmegen], Brigham & Women’s Hospital [Boston] (BWH), Tel Aviv University (TAU), University of Amsterdam [Amsterdam] (UvA), Universität Leipzig, University Medical Center [Utrecht], Geisinger Autism & Developmental Medicine Institute [Danville, PA, USA] (ADMI), GeneDx [Gaithersburg, MD, USA], University of Akron, University of Washington [Seattle], William Harvey Research Institute, Barts and the London Medical School, University of Edinburgh, Mary Bridge Childrens Hospital [Tacoma, WA, USA], NorthShore University HealthSystem [Evanston, IL, USA], Institute of Child Health [Tamil Nadu, India] (Hospital for Children), Boston University [Boston] (BU), Cortica Healthcare [San Rafael, CA, USA], Moscow Medical Institute of Health Ministry [Moscow, Russia], Pirogov Russian National Research Medical University, Dr. Mehta's Hospitals [Tamil Nadu, India], Seattle Children’s Hospital, Children's Mercy Hospital [Kansas City], University of Missouri [Kansas City] (UMKC), University of Missouri System, Neuro Spinal Hospital [Dubai, UAE], University Children’s Hospital [Skopje, Macédoine], Columbia University [New York], University Hospital Bonn, Massachusetts General Hospital [Boston], Rockefeller University [New York], Yale School of Medicine [New Haven, Connecticut] (YSM), Human Genetics, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, Université de Lille-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Radboud university [Nijmegen], Tel Aviv University [Tel Aviv], Universität Leipzig [Leipzig], Pirogov Russian National Research Medical University [Moscow, Russia], Yale University School of Medicine, INSERM, Université de Lille, Protéomique, Réponse Inflammatoire, Spectrométrie de Masse (PRISM) - U1192, SALZET, Michel
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
American journal of human genetics, 107(4), 727-742. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107, 4, pp. 727-742
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 727-742مصطلحات موضوعية: 0301 basic medicine, Male, Morpholino, Xenopus, 030232 urology & nephrology, Endogenous retrovirus, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], transcription regulator, Interactome, Epigenesis, Genetic, Morpholinos, Pathogenesis, ZNF198, Mice, 0302 clinical medicine, whole-exome sequencing, Child, Urinary Tract, Genetics (clinical), Exome sequencing, Genetics, Mice, Knockout, ZMYM2, genetic kidney disease, Forkhead Transcription Factors, FOXP1, 3. Good health, Pedigree, extra-renal features, DNA-Binding Proteins, Child, Preschool, Larva, syndromic CAKUT, Female, Protein Binding, Neuroinformatics, Heterozygote, Biology, Article, Amphibian Proteins, 03 medical and health sciences, Exome Sequencing, [SDV.BC.BC] Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Gene silencing, Animals, Humans, Family, Transcription factor, FIM, Infant, Repressor Proteins, 030104 developmental biology, genomic analysis, Case-Control Studies, Urogenital Abnormalities, congenital anomalies of the kidney and urinary tract, Mutation, Transcription Factors
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet; application/octet-stream
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0bcf100f3cbcb4de0590d4409d43436
http://www.scopus.com/inward/record.url?scp=85091260805&partnerID=8YFLogxK -
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المؤلفون: Luca Schierbaum, Amar J. Majmundar, Friedhelm Hildebrandt, Hanan M. Fathy, Avram Z. Traum, Bixia Zheng, Ankana Daga, Sophia Schneider, Florian Buerger, Konstantin Deutsch, Mohammed Shalaby, Steve Seltzsam, Rufeng Dai, Caroline M. Kolvenbach, Jameela A. Kari, Daanya Salmanullah, Michelle A. Baum, Ronen Schneider, Verena Klämbt, Youying Mao, Nancy Rodig, Kirollos Yousef, Deborah R. Stein, Loai A. Eid, Michael A. J. Ferguson, Neveen A. Soliman, Isabel Ottlewski, Franziska Kause, Makiko Nakayama, Sherif El Desoky, Ethan W. Lai, Nina Mann, Hazem S. Awad, Stuart B. Bauer, Michael J. Somers, Dalia Pantel, Velibor Tasic, Ana C. Onuchic-Whitford, Shrikant Mane, Chunyan Wang, Dervla M. Connaughton, Chen-Han Wilfred Wu, Ghaleb Daouk, Shirlee Shril, Camille Nicolas-Frank
المصدر: Genet Med
مصطلحات موضوعية: Genetics, Vesico-Ureteral Reflux, business.industry, Disease, medicine.disease, Kidney, Phenotype, Article, Clinical diagnosis, Urogenital Abnormalities, medicine, Humans, Exome, Allele, business, Urinary Tract, Gene, Clinical syndrome, Genetics (clinical), Exome sequencing, Alleles, Kidney disease
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المؤلفون: Amar J. Majmundar, Daniela A. Braun, Verena Klämbt, Youying Mao, Ali Amar, Ihsan Ullah, Florian Buerger, Caroline M. Kolvenbach, Neveen A. Soliman, Ker Sin Tan, Ana C. Onuchic-Whitford, Rufeng Dai, Friedhelm Hildebrandt, Shirlee Shril, Julie D. Forman-Kay, Chin Heng Chen, Marwa M. Nabhan, Andreas Heilos, Daanya Salmanullah, Richard P. Lifton, Kaitlyn Eddy, Konstantin Deutsch, Michelle Scurr, Renate Kain, Isabel Ottlewski, Melissa H. Little, Ronen Schneider, Thomas A. Forbes, Nina Mann, Makiko Nakayama, Eugen Widmeier, Seymour Rosen, Sara E. Howden, Amy Kolb, Thomas M. Kitzler, Shrikant Mane, Ethan W. Lai, Mickael Krzeminski, Christoph Aufricht
المصدر: Science Advances. 7
مصطلحات موضوعية: 0303 health sciences, Gene knockdown, Multidisciplinary, Podosome, 030232 urology & nephrology, Actin remodeling, Glomerulosclerosis, macromolecular substances, Biology, medicine.disease, 3. Good health, Cell biology, Podocyte, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Glomerulopathy, medicine, Filopodia, Exome sequencing, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ed3f93389fc6219c07128c86ea140d9d
https://doi.org/10.1126/sciadv.abe1386 -
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المؤلفون: Amar J, Majmundar, Florian, Buerger, Thomas A, Forbes, Verena, Klämbt, Ronen, Schneider, Konstantin, Deutsch, Thomas M, Kitzler, Sara E, Howden, Michelle, Scurr, Ker Sin, Tan, Mickaël, Krzeminski, Eugen, Widmeier, Daniela A, Braun, Ethan, Lai, Ihsan, Ullah, Ali, Amar, Amy, Kolb, Kaitlyn, Eddy, Chin Heng, Chen, Daanya, Salmanullah, Rufeng, Dai, Makiko, Nakayama, Isabel, Ottlewski, Caroline M, Kolvenbach, Ana C, Onuchic-Whitford, Youying, Mao, Nina, Mann, Marwa M, Nabhan, Seymour, Rosen, Julie D, Forman-Kay, Neveen A, Soliman, Andreas, Heilos, Renate, Kain, Christoph, Aufricht, Shrikant, Mane, Richard P, Lifton, Shirlee, Shril, Melissa H, Little, Friedhelm, Hildebrandt
المصدر: Science advances. 7(1)
مصطلحات موضوعية: Mice, Nephrotic Syndrome, Podocytes, Animals, Formins, Humans, Kidney Diseases, Actins, Adaptor Proteins, Signal Transducing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3b63036377726b088d95216350a26715
https://pubmed.ncbi.nlm.nih.gov/33523862