نتائج البحث - "David Keene"

1

22q11.2 duplications in a UK cohort with bladder exstrophy–epispadias complex

المؤلفون: Glenda M. Beaman, Jill E. Urquhart, Adrian S. Woolf, William G. Newman, Helen M. Stuart, David Keene, Imran Mushtaq, Raimondo M. Cervellione

المصدر: Newman, W, Woolf, A S, Beaman, G, Cervellione, R, Stuart, H, Keene, D & Mushtaq, I 2019, ' 22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.61032

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, DNA Copy Number Variations, Microarray, Chromosomes, Human, Pair 22, Urinary system, 030105 genetics & heredity, Bioinformatics, Polymorphism, Single Nucleotide, 03 medical and health sciences, DiGeorge syndrome, Chromosome Duplication, Gene duplication, DiGeorge Syndrome, Odds Ratio, Genetics, Humans, Medicine, Abnormalities, Multiple, Genetic Predisposition to Disease, Copy-number variation, Genetic Association Studies, Genetics (clinical), Adaptor Proteins, Signal Transducing, Gastrointestinal tract, business.industry, Bladder Exstrophy, medicine.disease, United Kingdom, Pediatric urology, Phenotype, 030104 developmental biology, Female, business, Congenital disorder

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e494f47ff0703da8b43ab1c0bbe5429
https://doi.org/10.1002/ajmg.a.61032

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2

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

المؤلفون: Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, Öznur Yilmaz, Anna S. Japp, Filipa M. Lopes, Michael Pleschka, Alina C. Hilger, Sophia Schneider, William G. Newman, Glenda M. Beaman, Agneta Nordenskjöld, Anne-Karoline Ebert, Martin Promm, Wolfgang H. Rösch, Raimund Stein, Karin Hirsch, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Martin Lacher, Dietrich Kluth, Jan-Hendrik Gosemann, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Göran Läckgren, David Keene, Raimondo M. Cervellione, Elisa Giorgio, Massimo Di Grazia, Wouter F. J. Feitz, Carlo L. M. Marcelis, Iris A. L. M. Van Rooij, Arend Bökenkamp, Goedele M. A. Beckers, Catherine E. Keegan, Amit Sharma, Tikam Chand Dakal, Lars Wittler, Phillip Grote, Nadine Zwink, Ekkehart Jenetzky, Alfredo Brusco, Holger Thiele, Michael Ludwig, Ulrich Schweizer, Adrian S. Woolf, Benjamin Odermatt, Heiko Reutter

المساهمون: Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Urology

المصدر: Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Frontiers in Cell and Developmental Biology
Frontiers in Cell and Developmental Biology, 8:567. Frontiers Media S.A.
Rieke, J M, Zhang, R, Braun, D, Yilmaz, Ö, Japp, A S, Lopes, F M, Pleschka, M, Hilger, A C, Schneider, S, Newman, W G, Beaman, G M, Nordenskjöld, A, Ebert, A K, Promm, M, Rösch, W H, Stein, R, Hirsch, K, Schäfer, F M, Schmiedeke, E, Boemers, T M, Lacher, M, Kluth, D, Gosemann, J H, Anderberg, M, Barker, G, Holmdahl, G, Läckgren, G, Keene, D, Cervellione, R M, Giorgio, E, Di Grazia, M, Feitz, W F J, Marcelis, C L M, Van Rooij, I A L M, Bökenkamp, A, Beckers, G M A, Keegan, C E, Sharma, A, Dakal, T C, Wittler, L, Grote, P, Zwink, N, Jenetzky, E, Brusco, A, Thiele, H, Ludwig, M, Schweizer, U, Woolf, A S, Odermatt, B & Reutter, H 2020, ' SLC20A1 Is Involved in Urinary Tract and Urorectal Development ', Frontiers in Cell and Developmental Biology, vol. 8, 567 . https://doi.org/10.3389/fcell.2020.00567
Frontiers in Cell and Developmental Biology, 8

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Pathology, Morpholino, Pediatrics, Embryonalentwicklung, Blasenekstrophie, Bladder exstrophy, Zebrabärbling, 0302 clinical medicine, bladder exstrophy-epispadias complex, CAKUT, cloacal malformation, functional genetics, kidney formation, SLC20A1, urinary tract development, zebrafish development, Urinary tract, Growth and development, Zebrafish, lcsh:QH301-705.5, Niere, Original Research, Kidney, Embryology, Pediatrik, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], 030220 oncology & carcinogenesis, embryonic structures, medicine.symptom, medicine.medical_specialty, Epispadias, animal structures, Urinary system, Biology, Kidney cysts, Cell and Developmental Biology, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, ddc:610, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Cloaca, Abnormalities, Cell Biology, medicine.disease, Cloacal exstrophy, biology.organism_classification, Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10], 030104 developmental biology, Cloaca (embryology), lcsh:Biology (General), Developmental Biology

وصف الملف: application/pdf; image/tiff

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92b83e524395f064049d7624f2e1226a
https://www.frontiersin.org/article/10.3389/fcell.2020.00567/full

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The management of symptomatic simple renal cysts in children

المؤلفون: R. Hawkes, Supul Hennayake, Tamás Cserni, David Keene, Alan P. Dickson, C. Koh

المصدر: Journal of Pediatric Surgery Case Reports, Vol 28, Iss, Pp 21-29 (2018)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7778e99c711df47d0dc1c033122de9e0
https://doi.org/10.1016/j.epsc.2017.09.002

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4

The Genomic Architecture of Bladder Exstrophy Epispadias Complex

المؤلفون: Raimondo M. Cervellione, William G. Newman, Glenda M. Beaman, Heiko Reutter, David Keene

المصدر: Newman, W, Beaman, G, Keene, D, Cervellione, R & Reutter, H 2021, ' The genomic architecture of bladder exstrophy epispadias complex ', Genes . https://doi.org/10.3390/genes12081149
Genes, Vol 12, Iss 1149, p 1149 (2021)
Genes