المؤلفون: Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8

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

URL الوصول: https://doaj.org/article/dc620dcacdf24d3b958ada1a32327869

المؤلفون: Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S. Woolf, Markus Eckstein, Alina C. Hilger, Gabriel C. Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M. Torres, Jose L. Hernandez, Philipp Erben, Carlo Maj, Jose M. Olmos, Jose A. Riancho, Carmen Valero, Isabel C. Hostettler, Henry Houlden, David J. Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C. Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Alfredo Berettini, David Keene, Raimondo M. Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Iris A. L. M. van Rooij, Wouter F. J. Feitz, Carlo L. M. Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P. Gale, Melanie M. Y. Chan, Kerstin U. Ludwig, Markus M. Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp, Heiko Reutter

المصدر: Communications Biology, Vol 5, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2399-3642

URL الوصول: https://doaj.org/article/3185cad232344b7081367260f4859843

المؤلفون: Ricarda Köllges, Jil Stegmann, Sophia Schneider, Lea Waffenschmidt, Julia Fazaal, Katinka Breuer, Alina C. Hilger, Gabriel C. Dworschak, Enrico Mingardo, Wolfgang Rösch, Aybike Hofmann, Claudia Neissner, Anne-Karolin Ebert, Raimund Stein, Nina Younsi, Karin Hirsch-Koch, Eberhard Schmiedeke, Nadine Zwink, Ekkehart Jenetzky, Holger Thiele, Kerstin U. Ludwig, Heiko Reutter

المصدر: Biomolecules, Vol 13, Iss 7, p 1117 (2023)

مصطلحات موضوعية: exome analysis, molecular inversion probe, exstrophy, cloacal exstrophy, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-273X/13/7/1117; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/74b382b7c34646239735014ee1312e5a

المؤلفون: Gabriel C. Dworschak, Heiko M. Reutter, Michael Ludwig

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Anorectal malformation, Constipation, Currarino syndrome, MNX1, Presacral mass, Sacral agenesis, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/faeba030edc04a5aacf73f4ad434c1a5

المؤلفون: Romy van de Putte, Gabriel C. Dworschak, Erwin Brosens, Heiko M. Reutter, Carlo L. M. Marcelis, Rocio Acuna-Hidalgo, Nehir E. Kurtas, Marloes Steehouwer, Sally L. Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Anna Morandi, Maria F. Bedeschi, Michael D. Bates, Marc A. Levitt, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Iris A. L. M. van Rooij, Alexander Hoischen

المصدر: Frontiers in Pediatrics, Vol 8 (2020)

مصطلحات موضوعية: anorectal malformations, duane-radial ray syndrome, esophageal atresia, genetics-first, molecular inversion probe, Opitz-G/BBB syndrome, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2020.00310/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/8878786ed8f743aab8a58e7142819dab

المؤلفون: Gabriel C. Dworschak, Nadine Zwink, Eberhard Schmiedeke, Kiarasch Mortazawi, Stefanie Märzheuser, Konrad Reinshagen, Johannes Leonhardt, Barbara Gómez, Patrick Volk, Anke Rißmann, Ekkehart Jenetzky, Heiko Reutter

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-5 (2017)

مصطلحات موضوعية: Anorectal malformation, ARM, Inheritance, Recurrence risk, Genetic counseling, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0729-7; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/d9a6a915f3974c23a8a5de96283aadb4

المؤلفون: Gabriel C. Dworschak, Iris A. L. M. van Rooij, Heiko M. Reutter

المصدر: Genes, Vol 12, Iss 9, p 1298 (2021)

مصطلحات موضوعية: anorectal malformation (ARM), de novo, heritability, fecundity, copy number variation (CNV), birth defect, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/9/1298; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/8b2dec05526c4479805d8f0d32f896e6

المؤلفون: Gabriel C. Dworschak, Hartmut Engels, Jessica Becker, Lukas Soellner, Thomas Eggermann, Florian Kipfmueller, Andreas Müller, Heiko Reutter, Martina Kreiß

المصدر: Frontiers in Pediatrics, Vol 6 (2018)

مصطلحات موضوعية: congenital diaphragmatic hernia, CDH, Beckwith-Wiedemann syndrome, BWS, 11p15 duplication, partial trisomy, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fped.2018.00116/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/e7968bba51c1455b9b0971561a0cb45f

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