المؤلفون: Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens, Alfredo Dueñas Rey, Stephan Käseberg, Melanie Jäger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, Nuria Gruartmoner, Mattias Van Heetvelde, Joachim Wolf, Robert Merget, Sabine Grasshoff-Derr, Jo Van Dorpe, Anne Hoorens, Heidi Stöhr, Luke Mansard, Anne-Françoise Roux, Thomas Langmann, Katharina Dannhausen, David Rosenkranz, Karl M. Wissing, Michel Van Lint, Heidi Rossmann, Friederike Häuser, Peter Nürnberg, Holger Thiele, Ulrich Zechner, Jillian N. Pearring, Elfride De Baere, Hanno J. Bolz

المصدر: The Journal of Clinical Investigation, Vol 133, Iss 8 (2023)

مصطلحات موضوعية: Cell biology, Genetics, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1558-8238

URL الوصول: https://doaj.org/article/5751fc3eb5124e36990ef17731c43da6

المؤلفون: Paola Midrio, Iris A. L. M. van Rooij, Giulia Brisighelli, Aracelli Garcia, Maria Fanjul, Paul Broens, Barbara D. Iacobelli, Carlos Giné, Gabriele Lisi, Cornelius E. J. Sloots, Francesco Fascetti Leon, Anna Morandi, Herjan van der Steeg, Stefan Giuliani, Sabine Grasshoff-Derr, Martin Lacher, Ivo de Blaauw, Ekkehart Jenetzky

المصدر: Frontiers in Pediatrics, Vol 8 (2020)

مصطلحات موضوعية: anorectal malformation, urinary fistula, colostogram, surgery, ARM-net, multirater agreement, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2020.00571/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/3d85f2a9fb5441599c74234dedf12c60

المؤلفون: Corina E. Thiem, Jil D. Stegmann, Alina C. Hilger, Lea Waffenschmidt, Charlotte Bendixen, Ricarda Köllges, Eberhard Schmiedeke, Frank‐Mattias Schäfer, Martin Lacher, Ferdinand Kosch, Sabine Grasshoff‐Derr, Carmen Kabs, Jörg Neser, Ekkehart Jenetzky, Julia Fazaal, Johannes Schumacher, Julia Hoefele, Kerstin U. Ludwig, Heiko Reutter

المصدر: Birth Defects Research. 114:478-486

مصطلحات موضوعية: Embryology, Health, Toxicology and Mutagenesis, Pediatrics, Perinatology and Child Health, Toxicology, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::05ab0ec1931b68144184160dfb0df69d
https://doi.org/10.1002/bdr2.2008

المؤلفون: Isabel C. Hageman, Hendrik J.J. van der Steeg, Ekkehart Jenetzky, Misel Trajanovska, Sebastian K. King, Ivo de Blaauw, Iris A.L.M. van Rooij, Dalia Aminoff, Eva Amerstorfer, Holger Till, Piero Bagolan, Barbara Iacobelli, Hakan Çavuşoğlu, Onur Ozen, Stefan Deluggi, Johanna Ludwiczek, Emre Divarci, María Fanjul, Francesco Fascetti-Leon, Araceli García Vázquez, Carlos Giné, Ramon Gorter, Justin de Jong, Jan Goseman, Martin Lacher, Caterina Grano, Sabine Grasshoff-Derr, Michel Haanen, Ernesto Leva, Anna Morandi, Gabriele Lisi, Igor Makedonsky, Carlo Marcelis, Paola Midrio, Marc Miserez, Mazeena Mohideen, Alessio PiniPrato, Carlos Reck-Burneo, Heiko Reutter, Stephan Rohleder, Inbal Samuk, Eberhard Schmiedeke, Nicole Schwarzer, Pim Sloots, Pernilla Stenström, Chris Verhaak, Alejandra Vilanova-Sánchez, Patrick Volk, Marieke Witvliet

المساهمون: Paediatric Surgery, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development

المصدر: Journal of pediatric surgery. W.B. Saunders Ltd

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Surgery, Patient registry, General Medicine, Quality, Anorectal malformations, Rare diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0268d59bc5995a8ad39f1e71184707bb
http://www.scopus.com/inward/record.url?scp=85152273978&partnerID=8YFLogxK

المؤلفون: Corina E, Thiem, Jil D, Stegmann, Alina C, Hilger, Lea, Waffenschmidt, Charlotte, Bendixen, Ricarda, Köllges, Eberhard, Schmiedeke, Frank-Mattias, Schäfer, Martin, Lacher, Ferdinand, Kosch, Sabine, Grasshoff-Derr, Carmen, Kabs, Jörg, Neser, Ekkehart, Jenetzky, Julia, Fazaal, Johannes, Schumacher, Julia, Hoefele, Kerstin U, Ludwig, Heiko, Reutter

المصدر: Birth defects researchREFERENCES. 114(10)

مصطلحات موضوعية: Heart Defects, Congenital, Trachea, Esophagus, Fatigue Syndrome, Chronic, Limb Deformities, Congenital, Anal Canal, Humans, Forkhead Transcription Factors, 3-Hydroxyanthranilate 3,4-Dioxygenase, HSP90 Heat-Shock Proteins, Kidney, Anorectal Malformations, Spine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::72367172b89796c202ec1d26bd6847f0
https://pubmed.ncbi.nlm.nih.gov/35362267

المؤلفون: Jillian N. Pearring, Jason R. Willer, Joachim Wolf, Mattias Van Heetvelde, Heidi Stöhr, Anne-Françoise Roux, Heidi Rossmann, Nafisa Nuzhat, David Rosenkranz, Jennifer Winter, Sabine Grasshoff-Derr, Kristof Van Schil, Sandra Liakopoulos, Robert Merget, Luke Mansard, Miriam Bauwens, Hanh Truong, Hanno J. Bolz, Peter Nürnberg, Nuria Gruartmoner, Holger Thiele, U. Zechner, Anne Hoorens, Alfredo Dueñas Rey, Thomas Langmann, Melanie Jäger, Karl Martin Wissing, Stephan Käseberg, Friederike Häuser, Jo Van Dorpe, Elfride De Baere, Michel Van Lint, Katharina Dannhausen

مصطلحات موضوعية: Retinal degeneration, Ciliopathy, Centriole, Ciliogenesis, Cilium, Retinitis pigmentosa, medicine, Basal body, Biology, medicine.disease, Ciliopathies, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e6b89eeab7b6bbfdacb15c2e8642daa6
https://doi.org/10.1101/2021.11.23.469779

المؤلفون: Sabine Grasshoff-Derr, Marc A. Levitt

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f7e456b4c6a972a93ab0e2e092641f77
https://doi.org/10.1016/b978-3-437-24842-9.00007-0

المؤلفون: Prof. Dr. med. Guido Fitze, Prof. Dr. med. Jörg Fuchs, Dr. med. Sabine Grasshoff-Derr, Univ.-Prof. Dr. med. Martin M. Kaiser, Dr. med. Hans-Joachim Kirschner, Dr. med. Peter Knorr, Dr. med. Ferdinand Kosch, Marc A. Levitt, Dr. med. Andreas Schmidt, Dr. med. Tobias Schuster, Prof. Dr. med. Dr. h. c. Maximilian Stehr, Prof. Dr. med. Lucas M. Wessel

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f6366cfc7235a06a23cc8ead958814f4
https://doi.org/10.1016/b978-3-437-24842-9.00017-3

المؤلفون: Paul M. A. Broens, Paola Midrio, Gabriele Lisi, Ekkehart Jenetzky, Iris A.L.M. van Rooij, M Fanjul, Sabine Grasshoff-Derr, Herjan van der Steeg, C. Giné, Giulia Brisighelli, B.D. Iacobelli, Ivo de Blaauw, Anna Morandi, Aracelli Garcia, Francesco Fascetti Leon, Cornelius E. J. Sloots, Stefan Giuliani, Martin Lacher

المساهمون: Pediatric Surgery

المصدر: Frontiers in Pediatrics, Vol 8 (2020)
Frontiers in Pediatrics
Frontiers in Pediatrics, 8:571. Frontiers Media S.A.
Frontiers in Pediatrics, 8

مصطلحات موضوعية: diagnostic study, medicine.medical_specialty, Fistula, anorectal malformation, Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], 030204 cardiovascular system & hematology, Pediatrics, surgery, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, BOWEL FUNCTION, Urinary Fistula, 030225 pediatrics, MANAGEMENT, Medicine, ddc:610, Intraobserver Variation, Original Research, colostogram, anorectal malformation, urinary fistula, colostogram, surgery, ARM-net, multirater agreement, radiology, diagnostic study, business.industry, ARM-net, lcsh:RJ1-570, Pediatric Surgeon, lcsh:Pediatrics, FISTULA, medicine.disease, radiology, Sagittal plane, Reconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10], multirater agreement, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], medicine.anatomical_structure, Homogeneous, PRESSURE DISTAL COLOSTOGRAM, Interobserver Variation, Pediatrics, Perinatology and Child Health, UPDATE, urinary fistula, Radiology, business, Kappa

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6817e44035a7eef3b62005bd9c1e73a6
https://doi.org/10.3389/fped.2020.00571

المؤلفون: Amelie T. van der Ven, Stefanie Märzheuser, Ferdinand Kosch, Boris Wittekindt, Ekkehart Jenetzky, Matthias Schäfer, Nicole Spychalski, Florian Marsch, Andrea Schmedding, Barbara Gomez, Markus Palta, Nadine Zwink, Katharina Kleine, Eeberhard Schmiedeke, Franziska Degenhardt, Sabine Grasshoff-Derr, Heiko Reutter, Franziska Kause, Johannes Leonhardt, Michael Ludwig, Haitham Bachour, Oliver Johannes Deffaa, Rong Zhang, Jörg Neser, Thomas M. Boemers, Stefanie Heilmann-Heimbach, Martin Lacher, Bernd Hoppe, Benno M. Ure

المصدر: Birth Defects Research. 109:1063-1069

مصطلحات موضوعية: 0301 basic medicine, Embryology, medicine.medical_specialty, Pathology, Health, Toxicology and Mutagenesis, Tracheoesophageal fistula, Disease, 030105 genetics & heredity, Toxicology, digestive system, Gastroenterology, 03 medical and health sciences, Internal medicine, medicine, In patient, Copy-number variation, business.industry, Karyotype, medicine.disease, VACTERL association, digestive system diseases, 030104 developmental biology, Atresia, Pediatrics, Perinatology and Child Health, Chromosomal region, business, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b359938d87d3ef8df50f5a81513f9492
https://doi.org/10.1002/bdr2.1042