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Whole Exome Sequencing/methods [MeSH]
(2)
Viewpoint
(2)
Rare Diseases/genetics [MeSH]
(2)
Whole Exome Sequencing/standards [MeSH]
(1)
Rare diseases
(1)
Rare Diseases/pathology [MeSH]
(1)
Rare Diseases/diagnosis [MeSH]
(1)
Public health
(1)
Practice Guidelines as Topic [MeSH]
(1)
Orphanet
(1)
Publikationstyp
Artikel
(3)
Erscheinungsjahr
2023
(1)
2021
(2)
Institution
Bundesinstitut für Arzneimittel und Medizinprodukte
(1)
3 Treffer
Kurzansicht
E-Jahr
Zugriff
Typ
Operations
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability
2023 .
Mazzucato, Monica
|
Pozza, Laura Visonà Dalla
|
Facchin, Paola
|
Angin, Cèline
|
Agius, Francis
|
Cavero-Carbonell, Clara
|
Corrochano, Virginia
|
Hanusova, Katerina
|
Kirch, Kurt
|
Lambert, Deborah
|
Lucano, Caterina
|
Maiella, Sylvie
|
Panzaru, Monica
|
Rusu, Cristina
|
Weber, Stefanie
|
Zurriaga, Oscar
|
Zvolsky, Miroslav
|
Rath, Ana
2023
http://purl.org/ontology/bibo/Article
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 .
Vissers, Lisenka
|
Schüle, Rebecca
|
Synofzik, Matthis
|
Töpf, Ana
|
Gilissen, Christian
|
Ossowski, Stephan
|
't Hoen, Peter
|
Schulze-Hentrich, Julia M.
|
Riess, Olaf
|
Brunner, Han G.
|
Brookes, Anthony
|
Rath, Ana
|
Bonne, Gisèle
|
hoogerbrugge, nicoline
|
Evangelista, Teresinha
|
Harmuth, Tina
|
Swertz, Morris
|
Spalding, John Dylan
|
Hoischen, Alexander
|
Graessner, Holm
|
Haack, Tobias B.
|
Zurek, Birte
|
Ellwanger, Kornelia
|
Demidov, German
|
Sturm, Marc
|
Kessler, Christoph
|
Wayand, Melanie
|
Wilke, Carlo
|
Traschütz, Andreas
|
Schöls, Ludger
|
Hengel, Holger
|
Heutink, Peter
|
Brunner, Han
|
Scheffer, Hans
|
Steyaert, Wouter
|
Sablauskas, Karolis
|
de Voer, Richarda M.
|
Kamsteeg, Erik-Jan
|
van de Warrenburg, Bart
|
van Os, Nienke
|
te Paske, Iris
|
Janssen, Erik
|
de Boer, Elke
|
Steehouwer, Marloes
|
Yaldiz, Burcu
|
Kleefstra, Tjitske
|
Veal, Colin
|
Gibson, Spencer
|
Wadsley, Marc
|
Mehtarizadeh, Mehdi
|
Riaz, Umar
|
Warren, Greg
|
Dizjikan, Farid Yavari
|
Shorter, Thomas
|
Straub, Volker
|
Bettolo, Chiara Marini
|
Specht, Sabine
|
Clayton-Smith, Jill
|
Banka, Siddharth
|
Alexander, Elizabeth
|
Jackson, Adam
|
Faivre, Laurence
|
Thauvin, Christel
|
Vitobello, Antonio
|
Denommé-Pichon, Anne-Sophie
|
Duffourd, Yannis
|
Tisserant, Emilie
|
Bruel, Ange-Line
|
Peyron, Christine
|
Pélissier, Aurore
|
Beltran, Sergi
|
Gut, Ivo Glynne
|
Laurie, Steven
|
Piscia, Davide
|
Matalonga, Leslie
|
Papakonstantinou, Anastasios
|
Bullich, Gemma
|
Corvo, Alberto
|
Garcia, Carles
|
Fernandez-Callejo, Marcos
|
Hernández, Carles
|
Picó, Daniel
|
Paramonov, Ida
|
Gumus, Gulcin
|
Bros-Facer, Virginie
|
Hanauer, Marc
|
Olry, Annie
|
Lagorce, David
|
Havrylenko, Svitlana
|
Izem, Katia
|
Rigour, Fanny
|
Stevanin, Giovanni
|
Durr, Alexandra
|
Davoine, Claire-Sophie
|
Guillot-Noel, Léna
|
Heinzmann, Anna
|
Coarelli, Giulia
|
Allamand, Valérie
|
Nelson, Isabelle
|
Yaou, Rabah Ben
|
Metay, Corinne
|
Eymard, Bruno
|
Cohen, Enzo
|
Atalaia, Antonio
|
Stojkovic, Tanya
|
Macek, Milan
|
Turnovec, Marek
|
Thomasová, Dana
|
Kremliková, Radka Pourová
|
Franková, Vera
|
Havlovicová, Markéta
|
Kremlik, Vlastimil
|
Parkinson, Helen
|
Keane, Thomas
|
Senf, Alexander
|
Robinson, Peter
|
Danis, Daniel
|
Robert, Glenn
|
Costa, Alessia
|
Patch, Christine
|
Hanna, Mike
|
Houlden, Henry
|
Reilly, Mary
|
Vandrovcova, Jana
|
Muntoni, Francesco
|
Zaharieva, Irina
|
Sarkozy, Anna
|
Timmerman, Vincent
|
Baets, Jonathan
|
Van de Vondel, Liedewei
|
Beijer, Danique
|
de Jonghe, Peter
|
Nigro, Vincenzo
|
Banfi, Sandro
|
Torella, Annalaura
|
Musacchia, Francesco
|
Piluso, Giulio
|
Ferlini, Alessandra
|
Selvatici, Rita
|
Rossi, Rachele
|
Neri, Marcella
|
Aretz, Stefan
|
Spier, Isabel
|
Sommer, Anna Katharina
|
Peters, Sophia
|
Oliveira, Carla
|
Pelaez, Jose Garcia
|
Matos, Ana Rita
|
José, Celina São
|
Ferreira, Marta
|
Gullo, Irene
|
Fernandes, Susana
|
Garrido, Luzia
|
Ferreira, Pedro
|
Carneiro, Fátima
|
Swertz, Morris A.
|
Johansson, Lennart
|
van der Velde, Joeri K.
|
van der Vries, Gerben
|
Neerincx, Pieter B.
|
Roelofs-Prins, Dieuwke
|
Köhler, Sebastian
|
Metcalfe, Alison
|
Verloes, Alain
|
Drunat, Séverine
|
Rooryck, Caroline
|
Trimouille, Aurelien
|
Castello, Raffaele
|
Morleo, Manuela
|
Pinelli, Michele
|
Varavallo, Alessandra
|
De la Paz, Manuel Posada
|
Sánchez, Eva Bermejo
|
Martín, Estrella López
|
Delgado, Beatriz Martínez
|
de la Rosa, F. Javier Alonso García
|
Ciolfi, Andrea
|
Dallapiccola, Bruno
|
Pizzi, Simone
|
Radio, Francesca Clementina
|
Tartaglia, Marco
|
Renieri, Alessandra
|
Benetti, Elisa
|
Balicza, Peter
|
Molnar, Maria Judit
|
Maver, Ales
|
Peterlin, Borut
|
Münchau, Alexander
|
Lohmann, Katja
|
Herzog, Rebecca
|
Pauly, Martje
|
Macaya, Alfons
|
Marcé-Grau, Anna
|
Osorio, Andres Nascimiento
|
de Benito, Daniel Natera
|
Lochmüller, Hanns
|
Thompson, Rachel
|
Polavarapu, Kiran
|
Beeson, David
|
Cossins, Judith
|
Cruz, Pedro M. Rodriguez
|
Hackman, Peter
|
Johari, Mridul
|
Savarese, Marco
|
Udd, Bjarne
|
Horvath, Rita
|
Capella, Gabriel
|
Valle, Laura
|
Holinski-Feder, Elke
|
Laner, Andreas
|
Steinke-Lange, Verena
|
Schröck, Evelin
|
Rump, Andreas
2021
http://purl.org/ontology/bibo/Article
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
2021 .
Timmann, Dagmar
|
Erasmus, Corrie E.
|
Reichbauer, Jennifer
|
Baets, Jonathan
|
Chinnery, Patrick
|
Dürr, Alexandra
|
Haack, Tobias
|
Hengel, Holger
|
Kamsteeg, Erik-Jan
|
Kamsteeg, Christoph
|
Molnar, Judit
|
Riess, Olaf
|
Schüle, Rebecca
|
Stevanin, Giovanni
|
Synofzik, Matthis
|
Timmerman, Vincent
|
van Os, Nienke
|
Wayand, Melanie
|
Wilke, Carlo
|
van de Warrenburg, Bart
|
Schöls, Ludger
|
Wilke, Carlo
|
Bevot, Andrea
|
Zuchner, Stephan
|
Synofzik, Matthis
|
Graessner, Holm
|
Zurek, Birte
|
Ellwanger, Kornelia
|
Ossowski, Stephan
|
Demidov, German
|
Sturm, Marc
|
Schulze-Hentrich, Julia M.
|
Heutink, Peter
|
Brunner, Han
|
Scheffer, Hans
|
Hoogerbrugge, Nicoline
|
Hoischen, Alexander
|
’t Hoen, Peter A. C.
|
Vissers, Lisenka E. L. M.
|
Gilissen, Christian
|
Steyaert, Wouter
|
Sablauskas, Karolis
|
de Voer, Richarda M.
|
Janssen, Erik
|
de Boer, Elke
|
Steehouwer, Marloes
|
Yaldiz, Burcu
|
Kleefstra, Tjitske
|
Brookes, Anthony J.
|
Veal, Colin
|
Gibson, Spencer
|
Wadsley, Marc
|
Mehtarizadeh, Mehdi
|
Riaz, Umar
|
Warren, Greg
|
Dizjikan, Farid Yavari
|
Shorter, Thomas
|
Töpf, Ana
|
Straub, Volker
|
Bettolo, Chiara Marini
|
Specht, Sabine
|
Clayton-Smith, Jill
|
Banka, Siddharth
|
Alexander, Elizabeth
|
Jackson, Adam
|
Faivre, Laurence
|
Thauvin, Christel
|
Vitobello, Antonio
|
Denommé-Pichon, Anne-Sophie
|
Duffourd, Yannis
|
Tisserant, Emilie
|
Bruel, Ange-Line
|
Peyron, Christine
|
Pélissier, Aurore
|
Beltran, Sergi
|
Gut, Ivo Glynne
|
Laurie, Steven
|
Piscia, Davide
|
Matalonga, Leslie
|
Papakonstantinou, Anastasios
|
Bullich, Gemma
|
Corvo, Alberto
|
Garcia, Carles
|
Fernandez-Callejo, Marcos
|
Hernández, Carles
|
Picó, Daniel
|
Paramonov, Ida
|
Gumus, Gulcin
|
Bros-Facer, Virginie
|
Rath, Ana
|
Hanauer, Marc
|
Olry, Annie
|
Lagorce, David
|
Havrylenko, Svitlana
|
Izem, Katia
|
Rigour, Fanny
|
Durr, Alexandra
|
Davoine, Claire-Sophie
|
Guillot-Noel, Léna
|
Heinzmann, Anna
|
Coarelli, Giulia
|
Bonne, Gisèle
|
Evangelista, Teresinha
|
Allamand, Valérie
|
Nelson, Isabelle
|
Yaou, Rabah Ben
|
Metay, Corinne
|
Eymard, Bruno
|
Cohen, Enzo
|
Atalaia, Antonio
|
Stojkovic, Tanya
|
Macek, Milan
|
Turnovec, Marek
|
Thomasová, Dana
|
Kremliková, Radka Pourová
|
Franková, Vera
|
Havlovicová, Markéta
|
Kremlik, Vlastimil
|
Parkinson, Helen
|
Keane, Thomas
|
Spalding, Dylan
|
Senf, Alexander
|
Robinson, Peter
|
Danis, Daniel
|
Robert, Glenn
|
Costa, Alessia
|
Patch, Christine
|
Hanna, Mike
|
Houlden, Henry
|
Reilly, Mary
|
Vandrovcova, Jana
|
Muntoni, Francesco
|
Zaharieva, Irina
|
Sarkozy, Anna
|
de Jonghe, Peter
|
Nigro, Vincenzo
|
Banfi, Sandro
|
Torella, Annalaura
|
Musacchia, Francesco
|
Piluso, Giulio
|
Ferlini, Alessandra
|
Selvatici, Rita
|
Rossi, Rachele
|
Neri, Marcella
|
Aretz, Stefan
|
Spier, Isabel
|
Sommer, Anna Katharina
|
Peters, Sophia
|
Oliveira, Carla
|
Pelaez, Jose Garcia
|
Matos, Ana Rita
|
José, Celina São
|
Ferreira, Marta
|
Gullo, Irene
|
Fernandes, Susana
|
Garrido, Luzia
|
Ferreira, Pedro
|
Carneiro, Fátima
|
Swertz, Morris A.
|
Johansson, Lennart
|
van der Velde, Joeri K.
|
van der Vries, Gerben
|
Neerincx, Pieter B.
|
Roelofs-Prins, Dieuwke
|
Köhler, Sebastian
|
Metcalfe, Alison
|
Verloes, Alain
|
Drunat, Séverine
|
Rooryck, Caroline
|
Trimouille, Aurelien
|
Castello, Raffaele
|
Morleo, Manuela
|
Pinelli, Michele
|
Varavallo, Alessandra
|
De la Paz, Manuel Posada
|
Sánchez, Eva Bermejo
|
Martín, Estrella López
|
Delgado, Beatriz Martínez
|
de la Rosa, F. Javier Alonso García
|
Ciolfi, Andrea
|
Dallapiccola, Bruno
|
Pizzi, Simone
|
Radio, Francesca Clementina
|
Tartaglia, Marco
|
Renieri, Alessandra
|
Benetti, Elisa
|
Balicza, Peter
|
Molnar, Maria Judit
|
Maver, Ales
|
Peterlin, Borut
|
Münchau, Alexander
|
Lohmann, Katja
|
Herzog, Rebecca
|
Pauly, Martje
|
Macaya, Alfons
|
Marcé-Grau, Anna
|
Osorio, Andres Nascimiento
|
de Benito, Daniel Natera
|
Lochmüller, Hanns
|
Thompson, Rachel
|
Polavarapu, Kiran
|
Beeson, David
|
Cossins, Judith
|
Cruz, Pedro M. Rodriguez
|
Hackman, Peter
|
Johari, Mridul
|
Savarese, Marco
|
Udd, Bjarne
|
Horvath, Rita
|
Capella, Gabriel
|
Valle, Laura
|
Holinski-Feder, Elke
|
Laner, Andreas
|
Steinke-Lange, Verena
|
Schröck, Evelin
|
Rump, Andreas
2021
http://purl.org/ontology/bibo/Article