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TÍTULO: Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (European Journal of Human Genetics, (2021), 29, 9, (1325-1331), 10.1038/s41431-021-00859-0)  Full Text
AUTORES: Birte Zurek; Kornelia Ellwanger; Kornelia Ellwanger; Lisenka E L M Vissers; Rebecca Schüle; Matthis Synofzik; Ana Töpf; Richarda M de Voer; Steven Laurie; Leslie Matalonga; Leslie Matalonga; Christian Gilissen; Stephan Ossowski; Peter A C ’t Hoen; Antonio Vitobello; Antonio Vitobello; Julia M Schulze Hentrich; Olaf Riess; Olaf Riess; Han G Brunner; Anthony J Brookes; Ana Rath; Gisèle Bonne; Gulcin Gumus; Gulcin Gumus; Alain Verloes; Nicoline Hoogerbrugge; Teresinha Evangelista; Tina Harmuth; Morris Swertz; Dylan Spalding; Alexander Hoischen; Sergi Beltran; Sergi Beltran; Holm Graessner; Tobias B Haack; Birte Zurek; German Demidov; Marc Sturm; Christoph Kessler; Melanie Wayand; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Wouter Steyaert; Karolis Sablauskas; Richarda M de Voer; Erik Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton Smith; Siddharth Banka; Elizabeth Alexander; Adam Jackson; Laurence Faivre; Christel Thauvin; Anne Sophie Denommé Pichon; Yannis Duffourd; Emilie Tisserant; Ange Line Bruel; Christine Peyron; Aurore Pélissier; Ivo Glynne Gut; Steven Laurie; Davide Piscia; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Virginie Bros Facer; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; ...Mais
PUBLICAÇÃO: 2021, FONTE: European Journal of Human Genetics, VOLUME: 29, NÚMERO: 9
INDEXADO EM: Scopus
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TÍTULO: Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing  Full Text
AUTORES: Ingrid P Vogelaar; Rachel S van der Post; Han H J M van Krieken; Liesbeth Spruijt; Wendy A G van Zelst Stams; Marleen M Kets; Jan Lubinski; Anna Jakubowska; Urszula Teodorczyk; Cora M Aalfs; Liselotte P van Hest; Hugo Pinheiro; Carla Oliveira; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; James R Lupski; Joep de Ligt; Lisenka E L M Vissers; Alexander Hoischen; Christian Gilissen; Maartje van de Vorst; Jelle J Goeman; Hans K Schackert; Guglielmina N Ranzani; Valeria Molinaro; Encarna Gomez G Garcia; Frederik J Hes; Elke Holinski Feder; Maurizio Genuardi; Margreet G E M Ausems; Rolf H Sijmons; Anja Wagner; Lizet E van der Kolk; Inga Bjornevoll; Hildegunn Hoberg Vetti; Ad Geurts van Kessel; Roland P Kuiper; Marjolijn J L Ligtenberg; Nicoline Hoogerbrugge; ...Mais
PUBLICAÇÃO: 2017, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 25, NÚMERO: 11
INDEXADO EM: Scopus WOS CrossRef: 26
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TÍTULO: Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome  Full Text
AUTORES: Lisenka E L M Vissers; Monica Bonetti; Jeroen Paardekooper Overman; Willy M Nillesen; Suzanna G M Frints; Joep de Ligt; Giuseppe Zampino; Ana Justino; Jose C Machado ; Marga Schepens; Han G Brunner; Joris A Veltman; Hans Scheffer; Piet Gros; Jose L Costa; Marco Tartaglia; Ineke van der Burgt; Helger G Yntema; Jeroen den Hertog;
PUBLICAÇÃO: 2015, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, NÚMERO: 3
INDEXADO EM: Scopus WOS CrossRef: 43
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TÍTULO: Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism  Full Text
AUTORES: David A Koolen; Juliette Dupont; Nicole de Leeuw; Lisenka E L M Vissers; Simone P A van den Heuvel; Alyson Bradbury; James Steer; Arjan P M de Brouwer; Leo P ten Kate; Willy M Nillesen; Bert B A de Vries; Michael J Parker;
PUBLICAÇÃO: 2012, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 20, NÚMERO: 7
INDEXADO EM: Scopus WOS CrossRef