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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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2دورية أكاديمية
المؤلفون: Caroline M. Kolvenbach, Gabriel C. Dworschak, Johanna M. Rieke, Adrian S. Woolf, Heiko Reutter, Benjamin Odermatt, Alina C. Hilger
المصدر: Molecular and Cellular Pediatrics, Vol 10, Iss 1, Pp 1-7 (2023)
مصطلحات موضوعية: Pediatrics, RJ1-570
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2194-7791
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3دورية أكاديمية
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
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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/ -
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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.
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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: Toshimitsu Kawate, Amar J. Majmundar, Dervla M. Connaughton, Amelie T. van der Ven, Rufeng Dai, Jameela A. Kari, Caroline M. Kolvenbach, Madeleine J. Tooley, Mohamed A. Shalaby, Ryan E. Hibbs, Erik Henze, Shirlee Shril, Jing Chen, Sherif El Desoky, Nina Mann, Stuart B. Bauer, Lucy Bownass, Hadas Ityel, Richard P. Lifton, Makiko Nakayama, Velibor Tasic, Shrikant Mane, Chen Han W. Wu, Jonathan M. Beckel, Heiko Reutter, Verena Klämbt, Sian Ellard, Weiqun Yu, Franziska Kause, Friedhelm Hildebrandt, Elisa De Franco, Anant Gharpure, Richard S. Lee
المصدر: Am J Hum Genet
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Urinary system, 030232 urology & nephrology, Receptors, Nicotinic, Kidney, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Report, Internal medicine, Genetics, medicine, Humans, Urinary Tract, Genetics (clinical), Upper urinary tract, Acetylcholine receptor, business.industry, Dysautonomia, Prognosis, medicine.disease, Pedigree, Nicotinic acetylcholine receptor, 030104 developmental biology, Endocrinology, Nicotinic agonist, Autonomic Nervous System Diseases, Urogenital Abnormalities, Mutation, Female, medicine.symptom, business, Urinary tract obstruction, Acetylcholine, Follow-Up Studies, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f31481546f97714ed445c35c16af3487
https://doi.org/10.1016/j.ajhg.2019.10.004 -
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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/ -
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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: Friedhelm Hildebrandt, Velibor Tasic, Shrikant Mane, Jameela A. Kari, Natasa Stajic, Nina Mann, Shirlee Shril, Richard P. Lifton, Zaheer Valivullah, Thomas M. Kitzler, Monkol Lek, Stefan Kohl, Sherif El Desoky, Ronen Schneider, Chen-Han W. Wu, Rufeng Dai, Amar J. Majmundar, Makiko Nakayama, Prabha Senguttuvan, Radovan Bogdanovic, Dervla M. Connaughton, Caroline M. Kolvenbach
المصدر: Hum Genet
مصطلحات موضوعية: Collagen Type IV, Male, Heterozygote, Nephrotic Syndrome, DNA Mutational Analysis, Web Browser, Biology, Kidney, medicine.disease_cause, Article, Congenital Abnormalities, Evolution, Molecular, 03 medical and health sciences, Nephronophthisis, Databases, Genetic, Exome Sequencing, Genetics, medicine, Humans, Missense mutation, Allele, Urinary Tract, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Mutation, 030305 genetics & heredity, Computational Biology, Heterozygote advantage, Genomics, Kidney Diseases, Cystic, medicine.disease, Porencephaly, Human genetics, Phenotype, Amino Acid Substitution, Genetic Loci, Female