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1دورية أكاديمية
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)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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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: 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
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4دورية أكاديمية
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
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5دورية أكاديمية
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
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6دورية أكاديمية
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
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7دورية أكاديمية
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
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8دورية أكاديمية
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
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9دورية أكاديمية
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
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10
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.