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1 Ergebnisse
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The RD-Connect Genome-Phenome Analysis Platform: Accelerati..:
Laurie, Steven
;
Piscia, Davide
;
Matalonga, Leslie
...
https://doi.org/10.1002/humu.24353. , 2022
Link:
https://hdl.handle.net/20.500.12105/15566
RT Journal T1
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
UL https://suche.suub.uni-bremen.de/peid=base-ftintsaludcarlos:oai:repisalud.isciii.es:20.500.12105_15566&Exemplar=1&LAN=DE A1 Laurie, Steven A1 Piscia, Davide A1 Matalonga, Leslie A1 Corvó, Alberto A1 Fernández-Callejo, Marcos A1 Garcia-Linares, Carles A1 Hernandez-Ferrer, Carles A1 Luengo, Cristina A1 Martínez, Inés A1 Papakonstantinou, Anastasios A1 Picó-Amador, Daniel A1 Protasio, Joan A1 Thompson, Rachel A1 Tonda, Raul A1 Bayés, Mònica A1 Bullich, Gemma A1 Camps-Puchadas, Jordi A1 Paramonov, Ida A1 Trotta, Jean-Rémi A1 Alonso, Angel A1 Attimonelli, Marcella A1 Béroud, Christophe A1 Bros-Facer, Virginie A1 Buske, Orion J A1 Cañada-Pallarés, Andrés A1 Fernández, José M A1 Hansson, Mats G A1 Horvath, Rita A1 Jacobsen, Julius O B A1 Kaliyaperumal, Rajaram A1 Lair-Préterre, Séverine A1 Licata, Luana A1 Lopes, Pedro A1 López-Martín, Estrella A1 Mascalzoni, Deborah A1 Monaco, Lucia A1 Pérez-Jurado, Luis A A1 Posada De la Paz, Manuel A1 Rambla, Jordi A1 Rath, Ana A1 Riess, Olaf A1 Robinson, Peter N A1 Salgado, David A1 Smedley, Damian A1 Spalding, Dylan A1 't Hoen, Peter A C A1 Töpf, Ana A1 Zaharieva, Irina A1 Graessner, Holm A1 Gut, Ivo G A1 Lochmüller, Hanns A1 Beltran, Sergi A1 Corvo, Alberto A1 Garcia, Carles A1 Fernandez‐Callejo, Marcos A1 Hernandez, Carles A1 Ntalis, Anastasios Papakonstantinou A1 Protassio, Joan A1 Martinez, Ines A1 Pico, Daniel A1 Bayes, Monica A1 Camps, Jordi A1 Trotta, Jean‐Remi A1 Bros‐Facer, Virginie A1 Buske, Orion A1 Cañada, Andrés A1 Fernandez, Josè Maria A1 Hansson, Mats A1 Jacobsen, Julius A1 Lair, Severine A1 López‐Martin, Estrella A1 Jurado, Luis Pérez A1 Posada, Manuel A1 Robinson, Peter A1 Spalding, Dylan J A1 't Hoen, Peter‐Bram A1 Gut, Ivo A1 Lochmúller, Hanns PB Wiley YR 2022 K1 Data sharing K1 Data standardization K1 Diagnostics K1 Genome analysis K1 NGS K1 Patient matchmaking K1 Rare diseases K1 Genomics K1 Exome K1 Genetic Association Studies K1 Humans K1 Phenotype JF https://doi.org/10.1002/humu.24353 LK http://dx.doi.org/https://hdl.handle.net/20.500.12105/15566 DO https://hdl.handle.net/20.500.12105/15566 SF ELIB - SuUB Bremen
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