Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Iris B.A.W. Te Paske"'
Autor:
Isabel Quintana, Mariona Terradas, Pilar Mur, Iris B.A.W. te Paske, Sophia Peters, Isabel Spier, Verena Steinke-Lange, Claudia Maestro, David Torrents, Montserrat Puiggròs, Romina Royo, Raul Tonda, Genís Parra, Davide Piscia, Sergi Beltrán, Matilde Navarro, Virginia Piñol, Joan Brunet, Noemi Gonzalez-Abuin, Gemma Aiza, Anna Sommer, Yasmijn van Herwaarden, Galuh Astuti, Elke Holinski-Feder, Nicoline Hoogerbrugge, Richarda M. de Voer, Stefan Aretz, Gabriel Capellá, Laura Valle
Publikováno v:
Genes and Diseases, Vol 10, Iss 3, Pp 753-757 (2023)
Externí odkaz:
https://doaj.org/article/6d5ba9489029433d87b24a830388dc13
Autor:
Iris B.A.W. Te Paske, Arjen R. Mensenkamp, Kornelia Neveling, Nicoline Hoogerbrugge, Marjolijn J.L. Ligtenberg, Richarda M. De Voer, Stéphanie Baert-Desurmont, Kathleen B.M. Claes, Kim de Leeneer, Lisa Elze, Simone van den Heuvel, Rachel S. van der Post, Yvonne van Twuijver, Tjakko J. van Ham, Anja Wagner, Mirjam M. de Jong, Edward M. Leter, Maartje Nielsen
Publikováno v:
Gastroenterology, 163, 1691-1694.e7
GASTROENTEROLOGY
Gastroenterology, 163, 6, pp. 1691-1694.e7
Gastroenterology, 163(6), 1691-1694.e7. Elsevier Saunders
GASTROENTEROLOGY
Gastroenterology, 163, 6, pp. 1691-1694.e7
Gastroenterology, 163(6), 1691-1694.e7. Elsevier Saunders
Contains fulltext : 288219.pdf (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6ca06207cc896da6e4c3a143fba3ccc
https://research.rug.nl/en/publications/951dee72-4ac1-4836-920f-73b753838cf8
https://research.rug.nl/en/publications/951dee72-4ac1-4836-920f-73b753838cf8
Autor:
Anna K. Sommer, Iris B.A.W. te Paske, José Garcia-Pelaez, Andreas Laner, Elke Holinski-Feder, Verena Steinke-Lange, Sophia Peters, Laura Valle, Isabel Spier, David Huntsman, Carla Oliveira, Richarda M. de Voer, Nicoline Hoogerbrugge, Stefan Aretz, Gabriel Capella, Gareth Evans, Andreas Rump, Evelin Schröck, Alexander Hoischen, Nicoline Geverink, Marc Tischkowitz, Leslie Matalonga, Steven Laurie, Christian Gilissen, Wouter Steyaert, German Demidov
Publikováno v:
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 5
European Journal of Medical Genetics, 65, 5
Background: Patients and families with suspected, but genetically unexplained (unsolved) genetic tumour risk syndromes lack appropriate treatment and prevention, leading to preventable morbidity and mortality. To tackle this problem, patients from th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd81a62ab9d3b8928c73e1a1d1473b35
http://hdl.handle.net/10230/54621
http://hdl.handle.net/10230/54621
Autor:
Elke de Boer, Burcu Yaldiz, Anne-Sophie Denommé-Pichon, Leslie Matalonga, Steve Laurie, Wouter Steyaert, Rick de Reuver, Christian Gilissen, Michael Kwint, Rolph Pfundt, Alain Verloes, Michèl A.A.P. Willemsen, Bert B.A. de Vries, A. Vitobello, Tjitske Kleefstra, Lisenka E.L.M. Vissers, Enzo Cohen, Isabel Cuesta, Daniel Danis, Fei Gao, Rita Horvath, Mridul Johari, Lennart Johanson, Shuang Li, Heba Morsy, Isabelle Nelson, Ida Paramonov, Iris B.A.W. te Paske, Peter Robinson, Marco Savarese, Ana Töpf, Aurélien Trimouille, Joeri K. van der Velde, Jana Vandrovcova, Antonio Vitobello, Birte Zurek, Kristin M. Abbot, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Mieke Kerstjens, Anna Lindstrand, Estrella López Martín, Milan Macek, Isabelle Maystadt, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca C. Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Gijs W.E. Santen, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Lisenka Vissers, Pavel Votypka, Klea Vyshka, Kristina Zguro
Publikováno v:
European Journal of Medical Genetics, 65(1). ELSEVIER
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 1
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 1
Almost half of all individuals affected by intellectual disability (ID) remain undiagnosed. In the Solve-RD project, exome sequencing (ES) datasets from unresolved individuals with (syndromic) ID (n = 1,472 probands) are systematically reanalyzed, st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ccb6aa76dc6f5b62a530f310d30c92
https://pubmed.ncbi.nlm.nih.gov/34863918
https://pubmed.ncbi.nlm.nih.gov/34863918