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Solving patients with rare diseases through programmatic re..:
Matalonga, Leslie
;
Hernández-Ferrer, Carles
;
DITF-ITHACA, Solve-RD
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-021-00852-7. , 2021
Link:
https://pub.dzne.de/record/155538
RT Journal T1
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
UL https://suche.suub.uni-bremen.de/peid=base-ftdznevdb:oai:pub.dzne.de:155538&Exemplar=1&LAN=DE A1 Matalonga, Leslie A1 Hernández-Ferrer, Carles A1 DITF-ITHACA, Solve-RD A1 Verloes, Alain A1 Vissers, Lisenka A1 Vitobello, Antonio A1 Votypka, Pavel A1 Vyshka, Klea A1 Zurek, Birte A1 Baets, Jonathan A1 Beijer, Danique A1 Bonne, Gisèle A1 Cohen, Enzo A1 DITF-euroNMD, Solve-RD A1 Cossins, Judith A1 Evangelista, Teresinha A1 Ferlini, Alessandra A1 Hackman, Peter A1 Hanna, Michael G A1 Horvath, Rita A1 Houlden, Henry A1 Johari, Mridul A1 Lau, Jarred A1 Lochmüller, Hanns A1 DITF-RND, Solve-RD A1 Macken, William L A1 Musacchia, Francesco A1 Nascimento, Andres A1 Natera-de Benito, Daniel A1 Nigro, Vincenzo A1 Piluso, Giulio A1 Pini, Veronica A1 Pitceathly, Robert D S A1 Polavarapu, Kiran A1 Cruz, Pedro M Rodriguez A1 Tonda, Raul A1 Sarkozy, Anna A1 Savarese, Marco A1 Selvatici, Rita A1 Thompson, Rachel A1 Udd, Bjarne A1 Van de Vondel, Liedewei A1 Vandrovcova, Jana A1 Zaharieva, Irina A1 Balicza, Peter A1 Laurie, Steven A1 Chinnery, Patrick A1 Dürr, Alexandra A1 Haack, Tobias A1 Hengel, Holger A1 Kamsteeg, Erik-Jan A1 Kamsteeg, Christoph A1 Lohmann, Katja A1 Macaya, Alfons A1 Marcé-Grau, Anna A1 Fernandez-Callejo, Marcos A1 Maver, Ales A1 Molnar, Judit A1 Münchau, Alexander A1 Peterlin, Borut A1 Riess, Olaf A1 Schöls, Ludger A1 Schüle-Freyer, Rebecca A1 Stevanin, Giovanni A1 Synofzik, Matthis A1 Timmerman, Vincent A1 Picó, Daniel A1 van de Warrenburg, Bart A1 van Os, Nienke A1 Wayand, Melanie A1 Wilke, Carlo A1 Haack, Tobias B A1 Graessner, Holm A1 Ellwanger, Kornelia A1 Ossowski, Stephan A1 Demidov, German A1 Garcia-Linares, Carles A1 Sturm, Marc A1 Schulze-Hentrich, Julia M A1 Kessler, Christoph A1 Heutink, Peter A1 Brunner, Han A1 Scheffer, Hans A1 Papakonstantinou, Anastasios A1 Hoogerbrugge, Nicoline A1 't Hoen, Peter A C A1 Steyaert, Wouter A1 Sablauskas, Karolis A1 Te Paske, Iris A1 Janssen, Erik A1 Steehouwer, Marloes A1 Yaldiz, Burcu A1 Corvó, Alberto A1 Brookes, Anthony J A1 Veal, Colin A1 Gibson, Spencer A1 Wadsley, Marc A1 Mehtarizadeh, Mehdi A1 Riaz, Umar A1 Warren, Greg A1 Dizjikan, Farid Yavari A1 Shorter, Thomas A1 Straub, Volker A1 Piscia, Davide A1 Joshi, Ricky A1 Bettolo, Chiara Marini A1 Specht, Sabine A1 Clayton-Smith, Jill A1 Banka, Siddharth A1 Alexander, Elizabeth A1 Jackson, Adam A1 Faivre, Laurence A1 Thauvin, Christel A1 Duffourd, Yannis A1 Tisserant, Emilie A1 Diez, Hector A1 Bruel, Ange-Line A1 Peyron, Christine A1 Pélissier, Aurore A1 Beltran, Sergi A1 Gut, Ivo Glynne A1 Bullich, Gemma A1 Gut, Ivo A1 Corvo, Alberto A1 Garcia, Carles A1 Hernández, Carles A1 Paramonov, Ida A1 Gumus, Gulcin A1 Bros-Facer, Virginie A1 Rath, Ana A1 Hoischen, Alexander A1 Hanauer, Marc A1 Olry, Annie A1 Lagorce, David A1 Havrylenko, Svitlana A1 Izem, Katia A1 Rigour, Fanny A1 Davoine, Claire-Sophie A1 Guillot-Noel, Léna A1 Heinzmann, Anna A1 Coarelli, Giulia A1 Allamand, Valérie A1 Nelson, Isabelle A1 Yaou, Rabah Ben A1 Metay, Corinne A1 Eymard, Bruno A1 Atalaia, Antonio A1 Stojkovic, Tanya A1 Macek, Milan A1 Turnovec, Marek A1 Thomasová, Dana A1 Kremliková, Radka Pourová A1 Franková, Vera A1 Havlovicová, Markéta A1 Kremlik, Vlastimil A1 Parkinson, Helen A1 Keane, Thomas A1 Consortia, Solve-RD A1 Spalding, Dylan A1 Senf, Alexander A1 Danis, Daniel A1 Robert, Glenn A1 Costa, Alessia A1 Patch, Christine A1 Hanna, Mike A1 Reilly, Mary A1 Muntoni, Francesco A1 de Jonghe, Peter A1 Banfi, Sandro A1 Torella, Annalaura A1 Cuesta, Isabel A1 Rossi, Rachele A1 Neri, Marcella A1 Aretz, Stefan A1 Spier, Isabel A1 Peters, Sophia A1 Oliveira, Carla A1 Pelaez, Jose Garcia A1 Matos, Ana Rita A1 José, Celina São A1 Ferreira, Marta A1 Gullo, Irene A1 Fernandes, Susana A1 Garrido, Luzia A1 Ferreira, Pedro A1 Carneiro, Fátima A1 Swertz, Morris A A1 Johansson, Lennart A1 van der Vries, Gerben A1 Neerincx, Pieter B A1 group, Solve-RD SNV-indel working A1 Denommé-Pichon, Anne-Sophie A1 Roelofs-Prins, Dieuwke A1 Köhler, Sebastian A1 Metcalfe, Alison A1 Rooryck, Caroline A1 Trimouille, Aurelien A1 Castello, Raffaele A1 Morleo, Manuela A1 Varavallo, Alessandra PB Stockton Press YR 2021 K1 info:eu-repo/classification/ddc/610 K1 Genetic Testing: methods K1 Genetic Testing: standards K1 Genomics: methods K1 Genomics: standards K1 Humans K1 Pedigree K1 Rare Diseases: diagnosis K1 Rare Diseases: genetics K1 Sensitivity and Specificity K1 Software JF info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-021-00852-7 LK http://dx.doi.org/https://pub.dzne.de/record/155538 DO https://pub.dzne.de/record/155538 SF ELIB - SuUB Bremen
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