JANSSEN, IRIS MARIJKE ELISA

JANSSEN, IRIS MARIJKE ELISA  

Mostra records
Risultati 1 - 2 di 2 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autore(i) File Abstract
An interconnected data infrastructure to support large-scale rare disease research 1-gen-2024 Johansson, ; Lennart F; Laurie, ; Spalding, Steve;; Gibson, Dylan;; Ruvolo, Spencer;; Thomas, David;; Piscia, Coline;; de Andrade, Davide;; Been, Fernanda;; Bijlsma, Gerieke;; Brunner, Marieke;; Cimerman, Han;; Dizjikan, Sandi;; Farid Yavari; Ellwanger, ; Fernandez, Kornelia;; Freeberg, Marcos;; van de Geijn, Mallory;; Kanninga, Gert-Jan;; Maddi, Roan;; Mehtarizadeh, Vatsalya;; Neerincx, Mehdi;; Ossowski, Pieter;; Rath, Stephan;; Roelofs-Prins, Ana;; Stok-Benjamins, Dieuwke;; van der Velde, Marloes;; K Joeri; Veal, ; van der Vries, Colin;; Wadsley, Gerben;; Warren, Marc;; Zurek, Gregory;; Keane, Birte;; Graessner, Thomas;; Beltran, Holm;; Swertz, Sergi;; Morris A; Brookes, ; Anthony J; null, ; Riess, Null;; Haack, Olaf;; Tobias B; Graessner, ; Zurek, Holm;; Ellwanger, Birte;; Ossowski, Kornelia;; Demidov, Stephan;; Sturm, German;; Schulze-Hentrich, Marc;; Julia M; Schüle, ; Rebecca;, Xu; Kessler, Jishu;; Kellner, Christoph;; Synofzik, Melanie;; Wilke, Matthis;; Traschütz, Carlo;; Schöls, Andreas;; Hengel, Ludger;; Lerche, Holger;; Kegele, Holger;; Heutink, Josua;; Brunner, Peter;; Scheffer, Han;; Hoogerbrugge, Hans;; Hoischen, Nicoline;; 't Hoen, Alexander;; Peter, A C; Vissers; Lisenka E, L M; Gilissen; Steyaert, Christian;; Sablauskas, Wouter;; de Voer, Karolis;; Richarda M; Kamsteeg, ; van de Warrenburg, Erik-Jan;; van Os, Bart;; te Paske, Nienke;; Janssen, Iris;; de Boer, Erik;; Steehouwer, Elke;; Yaldiz, Marloes;; Kleefstra, Burcu;; Brookes, Tjitske;; Anthony J; Veal, ; Gibson, Colin;; Maddi, Spencer;; Mehtarizadeh, Vatsalya;; Riaz, Mehdi;; Warren, Umar;; Dizjikan, Greg;; Farid Yavari; Shorter, ; Töpf, Thomas;; Straub, Ana;; Bettolo, Volker;; Chiara Marini; Manera, ; Jordi Diaz; Hambleton, ; Engelhardt, Sophie;; Clayton-Smith, Karin;; Banka, Jill;; Alexander, Siddharth;; Jackson, Elizabeth;; Faivre, Adam;; Thauvin, Laurence;; Vitobello, Christel;; Denommé-Pichon, Antonio;; Duffourd, Anne-Sophie;; Bruel, Yannis;; Peyron, Ange-Line;; Pélissier, Christine;; Beltran, Aurore;; Gut, Sergi;; Ivo Glynne; Laurie, ; Piscia, Steven;; Matalonga, Davide;; Papakonstantinou, Leslie;; Bullich, Anastasios;; Corvo, Gemma;; Fernandez-Callejo, Alberto;; Hernández, Marcos;; Picó, Carles;; Paramonov, Daniel;; Lochmüller, Ida;; Gumus, Hanns;; Bros-Facer, Gulcin;; Rath, Virginie;; Hanauer, Ana;; Lagorce, Marc;; Hongnat, David;; Chahdil, Oscar;; Lebreton, Maroua;; Stevanin, Emeline;; Durr, Giovanni;; Davoine, Alexandra;; Guillot-Noel, Claire-Sophie;; Heinzmann, Léna;; Coarelli, Anna;; Bonne, Giulia;; Evangelista, Gisèle;; Allamand, Teresinha;; Nelson, Valérie;; Yaou, Isabelle;; Rabah Ben; Metay, ; Eymard, Corinne;; Cohen, Bruno;; Atalaia, Enzo;; Stojkovic, Antonio;; Macek, Tanya;; Turnovec, Milan;; Thomasová, Marek;; Kremliková, Dana;; Radka Pourová; Franková, ; Havlovicová, Vera;; Lišková, Markéta;; Doležalová, Petra;; Parkinson, Pavla;; Keane, Helen;; Freeberg, Thomas;; Thomas, Mallory;; Spalding, Coline;; Robinson, Dylan;; Danis, Peter;; Robert, Daniel;; Costa, Glenn;; Patch, Alessia;; Hanna, Christine;; Houlden, Mike;; Reilly, Henry;; Vandrovcova, Mary;; Efthymiou, Jana;; Morsy, Stephanie;; Cali, Heba;; Magrinelli, Elisa;; Sisodiya, Francesca;; Sanjay M; Rohrer, ; Muntoni, Jonathan;; Zaharieva, Francesco;; Sarkozy, Irina;; Timmerman, Anna;; Baets, Vincent;; de Vries, Jonathan;; De Winter, Geert;; Beijer, Jonathan;; de Jonghe, Danique;; Peter; Van de Vondel, ; De Ridder, Liedewei;; Weckhuysen, Willem;; Nigro, Sarah;; Mutarelli, Vincenzo;; Morleo, Margherita;; Pinelli, Manuela;; Varavallo, Michele;; Banfi, Alessandra;; Torella, Sandro;; Musacchia, Annalaura;; Piluso, Francesco;; Ferlini, Giulio;; Selvatici, Alessandra;; Gualandi, Rita;; Bigoni, Francesca;; Rossi, Stefania;; Neri, Rachele;; Aretz, Marcella;; Spier, Stefan;; Sommer, Isabel;; Anna Katharina; Peters, ; Oliveira, Sophia;; Garcia-Pelaez, Carla;; Barbosa-Matos, Jose;; José, Rita;; Celina São; Ferreira, ; Gullo, Marta;; Fernandes, Irene;; Garrido, Susana;; Ferreira, Luzia;; Carneiro, Pedro;; Swertz, Fátima;; Morris A; Johansson, ; van der Velde, Lennart;; Joeri K; van der Vries, ; Neerincx, Gerben;; Pieter B; Ruvolo, ; Abbott, David;; Kristin M; Frederikse, ; Wilhemina, S Kerstjens; Zonneveld-Huijssoon; Roelofs-Prins, Eveline;; van Gijn, Dieuwke;; Köhler, Marielle;; Metcalfe, Sebastian;; Verloes, Alison;; Drunat, Alain;; Heron, Séverine;; Mignot, Delphine;; Keren, Cyril;; de Sainte Agathe, Boris;; Rooryck, Jean-Madeleine;; Lacombe, Caroline;; Trimouille, Didier;; De la Paz, Aurelien;; Manuel Posada; Sánchez, ; Eva Bermejo; Martín, ; Estrella López; Delgado, ; Beatriz Martínez; de la Rosa, ; F Javier Alonso García; Ciolfi, ; Dallapiccola, Andrea;; Pizzi, Bruno;; Radio, Simone;; Francesca Clementina; Tartaglia, ; Renieri, Marco;; Furini, Alessandra;; Fallerini, Simone;; Benetti, Chiara;; Balicza, Elisa;; Molnar, Peter;; Maria Judit; Maver, ; Peterlin, Ales;; Münchau, Borut;; Lohmann, Alexander;; Herzog, Katja;; Pauly, Rebecca;; Macaya, Martje;; Cazurro-Gutiérrez, Alfons;; Pérez-Dueñas, Ana;; Munell, Belén;; Jarava, Francina;; Clara Franco; Masó, ; Laura Batlle; Marcé-Grau, ; Colobran, Anna;; Osorio, Roger;; Andrés Nascimento; de Benito, ; Daniel Natera; Lochmüller, ; Thompson, Hanns;; Polavarapu, Rachel;; Grimbacher, Kiran;; Beeson, Bodo;; Cossins, David;; Hackman, Judith;; Johari, Peter;; Savarese, Mridul;; Udd, Marco;; Horvath, Bjarne;; Chinnery, Rita;; Patrick F; Ratnaike, ; Gao, Thiloka;; Schon, Fei;; Capella, Katherine;; Valle, Gabriel;; Holinski-Feder, Laura;; Laner, Elke;; Steinke-Lange, Andreas;; Schröck, Verena;; Rump, Evelin;; Başak, Andreas;; Ayşe Nazlı; Hemelsoet, ; Dermaut, Dimitri;; Schuermans, Bart;; Poppe, Nika;; Verdin, Bruce;; Mei, Hannah;; Vetro, Davide;; Balestrini, Annalisa;; Guerrini, Simona;; Claeys, Renzo;; Santen, Kristl;; Gijs, W E; Bijlsma; Emilia K; Hoffer, ; Mariette, J V; Ruivenkamp; Claudia, A L; Boztug; Haimel, Kaan;; Maystadt, Matthias;; Cordts, Isabelle;; Deschauer, Isabell;; Zaganas, Marcus;; Kokosali, Ioannis;; Lambros, Evgenia;; Evangeliou, Mathioudakis;; Spilioti, Athanasios;; Kapaki, Martha;; Bourbouli, Elisabeth;; Striano, Mara;; Zara, Pasquale;; Riva, Federico;; Iacomino, Antonella;; Uva, Michele;; Scala, Paolo;; Scudieri, Marcello;; Cilio, Paolo;; Carpancea, Maria-Roberta;; Depondt, Evelina;; Lederer, Chantal;; Sznajer, Damien;; Duerinckx, Yves;; Mary, Sarah;; Depienne, Sandrine;; Roos, Christel;; May, Andreas;; Patrick, Bernard -
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2) 1-gen-2021 de Boer, E.; Ockeloen, C. W.; Matalonga, L.; Horvath, R.; Cohen, E.; Cuesta, I.; Danis, D.; Denommé-Pichon, A. S.; Duffourd, Y.; Gilissen, C.; Johari, M.; Laurie, S.; Li, S.; Matalonga, L.; Nelson, I.; Peters, S.; Paramonov, I.; Prasanth, S.; Robinson, P.; Sablauskas, K.; Savarese, M.; Steyaert, W.; Töpf, A.; van der Velde, J. K.; Vitobello, A.; Rodenburg, R. J.; Coenen, M. J. H.; Janssen, M.; Henssen, D.; Gilissen, C.; Steyaert, W.; Paramonov, I.; Banka, S.; Benetti, E.; Casari, G.; Ciolfi, A.; Clayton-Smith, J.; Dallapiccola, B.; de Boer, E.; Faivre, L.; Haack, T. B.; Hammarsjö, A.; Havlovicova, M.; Hoischen, A.; Hugon, A.; Jackson, A.; Kleefstra, T.; Lindstrand, A.; López-Martín, E.; Macek, M.; Nigro, V.; Nordgren, A.; Pettersson, M.; Pinelli, M.; Pizzi, S.; Posada, M.; Radio, F. C.; Renieri, A.; Rooryck, C.; Ryba, L.; Schwarz, M.; Tartaglia, M.; Thauvin, C.; Torella, A.; Verloes, A.; Vissers, L. E. L. M.; Vyshka, K.; Zurek, B.; Trimouille, A.; Kleefstra, T.; Verloes, A.; Vissers, L. E. L. M. -