1. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
- Author
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Laurie, Steven, Steyaert, Wouter, de Boer, Elke, Polavarapu, Kiran, Schuermans, Nika, Sommer, Anna K., Demidov, German, Ellwanger, Kornelia, Paramonov, Ida, Thomas, Coline, Aretz, Stefan, Baets, Jonathan, Benetti, Elisa, Bullich, Gemma, Chinnery, Patrick F., Clayton-Smith, Jill, Cohen, Enzo, Danis, Daniel, de Sainte Agathe, Jean-Madeleine, Denommé-Pichon, Anne-Sophie, Diaz-Manera, Jordi, Efthymiou, Stephanie, Faivre, Laurence, Fernandez-Callejo, Marcos, Freeberg, Mallory, Garcia-Pelaez, José, Guillot-Noel, Lena, Haack, Tobias B., Hanna, Mike, Hengel, Holger, Horvath, Rita, Houlden, Henry, Jackson, Adam, Johansson, Lennart, Johari, Mridul, Kamsteeg, Erik-Jan, Kellner, Melanie, Kleefstra, Tjitske, Lacombe, Didier, Lochmüller, Hanns, López-Martín, Estrella, Macaya, Alfons, Marcé-Grau, Anna, Maver, Aleš, Morsy, Heba, Muntoni, Francesco, Musacchia, Francesco, Nelson, Isabelle, Nigro, Vincenzo, Olimpio, Catarina, Oliveira, Carla, Paulasová Schwabová, Jaroslava, Pauly, Martje G., Peterlin, Borut, Peters, Sophia, Pfundt, Rolph, Piluso, Giulio, Piscia, Davide, Posada, Manuel, Reich, Selina, Renieri, Alessandra, Ryba, Lukas, Šablauskas, Karolis, Savarese, Marco, Schöls, Ludger, Schütz, Leon, Steinke-Lange, Verena, Stevanin, Giovanni, Straub, Volker, Sturm, Marc, Swertz, Morris A., Tartaglia, Marco, te Paske, Iris B. A. W., Thompson, Rachel, Torella, Annalaura, Trainor, Christina, Udd, Bjarne, Van de Vondel, Liedewei, van de Warrenburg, Bart, van Reeuwijk, Jeroen, Vandrovcova, Jana, Vitobello, Antonio, Vos, Janet, Vyhnálková, Emílie, Wijngaard, Robin, Wilke, Carlo, William, Doreen, Xu, Jishu, Yaldiz, Burcu, Zalatnai, Luca, Zurek, Birte, Brookes, Anthony J., Evangelista, Teresinha, Gilissen, Christian, Graessner, Holm, Hoogerbrugge, Nicoline, Ossowski, Stephan, Riess, Olaf, Schüle, Rebecca, Synofzik, Matthis, Verloes, Alain, Matalonga, Leslie, Brunner, Han G., Lohmann, Katja, de Voer, Richarda M., Töpf, Ana, Vissers, Lisenka E.L.M., Beltran, Sergi, and Hoischen, Alexander
- Published
- 2025
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