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1دورية أكاديمية
المؤلفون: Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Thompson, Rachel, Tassoni, Adrian, t Hoen, Peter A.C., Athanasiou, Dimitrios, Baker, Suzie-Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D'Angelo, Carla, Horvàth, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Blacas, Laura, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Plançon, Jean-Philippe, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke, de Visser, Marianne, Claeys, Kristl, Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns, Evangelista, Teresinha
المساهمون: European Commission, Atalaia, Antonio, Wandrei, Dagmar, Lalout, Nawel, Tassoni, Adrian, t Hoen, Peter A.C., Sakellariou, Paraskevi, Horvàth, Rita, Mancuso, Michelangelo, van der Beek, Nadine, Kornblum, Cornelia, Kirschner, Janbernd, Pareyson, Davide, Bassez, Guillaume, Jacoupy, Maxime, Eng, Catherine, Lamy, François, Haberlova, Jana, Brusse, Esther, Hoeijmakers, Janneke, de Visser, Marianne, Claeys, Kristl, Paradas, Carmen, Silani, Vincenzo, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns, Evangelista, Teresinha
مصطلحات موضوعية: FAIR data, Neuromuscular Diseases, Rare Diseases, Registry, Registry Hub
وصف الملف: application/pdf
العلاقة: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/EC//947598; Centro de Biotecnología y Genómica de Plantas (CBGP); Publisher's version; https://doi.org/10.1186/s13023-024-03059-3Test; Sí; Orphanet Journal of Rare Diseases 19(1): e66 (2024); http://hdl.handle.net/10261/349941Test; 2-s2.0-85185334453; https://api.elsevier.com/content/abstract/scopus_id/85185334453Test
الإتاحة: https://doi.org/10.1186/s13023-024-03059-3Test
http://hdl.handle.net/10261/349941Test
https://api.elsevier.com/content/abstract/scopus_id/85185334453Test -
2دورية أكاديمية
المؤلفون: Niehues, Anna, de Visser, Casper, Hagenbeek, Fiona A., Kulkarni, Purva, Pool, René, Karu, Naama, Kindt, Alida S.D., Singh, Gurnoor, Vermeiren, Robert R.J.M., Boomsma, Dorret I., van Dongen, Jenny, T'Hoen, Peter A.C., van Gool, Alain J.
المصدر: Niehues , A , de Visser , C , Hagenbeek , F A , Kulkarni , P , Pool , R , Karu , N , Kindt , A S D , Singh , G , Vermeiren , R R J M , Boomsma , D I , van Dongen , J , T'Hoen , P A C & van Gool , A J 2024 , ' A multi-omics data analysis workflow packaged as a FAIR Digital Object ' , GigaScience , vol. 13 , giad115 , pp. 1-12 . https://doi.org/10.1093/gigascience/giad115Test
مصطلحات موضوعية: FAIR, FDO, metadata, multi-omics, RO-Crate, workflow, /dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_, name=Netherlands Twin Register (NTR)
الإتاحة: https://doi.org/10.1093/gigascience/giad115Test
https://research.vu.nl/en/publications/10d53339-5c67-4c4f-9b3a-47d8b2f5c5e8Test
https://hdl.handle.net/1871.1/10d53339-5c67-4c4f-9b3a-47d8b2f5c5e8Test
http://www.scopus.com/inward/record.url?scp=85182301193&partnerID=8YFLogxKTest
http://www.scopus.com/inward/citedby.url?scp=85182301193&partnerID=8YFLogxKTest -
3دورية أكاديمية
المؤلفون: van Damme, Philip, Alarcón-Moreno, Pablo, Bernabé, César Henrique, Ballesteros, Alberto Cámara, Le Cornec, Clémence M. A., dos Santos Vieira, Bruna, van der Velde, K. Joeri, Zhang, Shuxin, Carta, Claudio, Cornet, Ronald, t Hoen, Peter A.C., Jacobsen, Annika, Swertz, Morris A., Roos, Marco, Benis, Nirupama
المساهمون: European Commission, van Damme, Philip, Alarcón-Moreno, Pablo, Bernabé, César Henrique, Ballesteros, Alberto Cámara, dos Santos Vieira, Bruna, van der Velde, K. Joeri, Zhang, Shuxin, Carta, Claudio, Cornet, Ronald, t Hoen, Peter A.C., Jacobsen, Annika, Swertz, Morris A., Roos, Marco, Benis, Nirupama
مصطلحات موضوعية: Data management planning, European Reference Networks, FAIR data, FAIR data stewardship, Patient registries, Rare diseases
وصف الملف: application/pdf
العلاقة: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/EC/H2020/825575; Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria-CSIC (INIA-CSIC); Publisher's version; https://doi.org/10.5334/dsj-2023-012Test; Sí; Data Science Journal 22: e12 (2023); http://hdl.handle.net/10261/331435Test; 2-s2.0-85164259134; https://api.elsevier.com/content/abstract/scopus_id/85164259134Test
الإتاحة: https://doi.org/10.5334/dsj-2023-012Test
http://hdl.handle.net/10261/331435Test
https://api.elsevier.com/content/abstract/scopus_id/85164259134Test -
4دورية أكاديمية
المؤلفون: Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B.A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Vitobello, Antonio, Vissers, Lisenka E.L.M., Faivre, Laurence, Abbott, Kristin M., Kerstjens, Mieke, Martín, Estrella López, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, 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 Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves
المصدر: GENETICS IN MEDICINE ; ISSN: 1098-3600 ; ISSN: 1530-0366
مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, Genetics (clinical)
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01GYYMK7P6MRHM0QJ19FAMCXHHTest; http://hdl.handle.net/1854/LU-01GYYMK7P6MRHM0QJ19FAMCXHHTest; http://doi.org/10.1016/j.gim.2023.100018Test; https://biblio.ugent.be/publication/01GYYMK7P6MRHM0QJ19FAMCXHH/file/01GZXB0F3BCQP9HK0JEFMJ5CT4Test
الإتاحة: https://doi.org/10.1016/j.gim.2023.100018Test
https://biblio.ugent.be/publication/01GYYMK7P6MRHM0QJ19FAMCXHHTest
http://hdl.handle.net/1854/LU-01GYYMK7P6MRHM0QJ19FAMCXHHTest
https://biblio.ugent.be/publication/01GYYMK7P6MRHM0QJ19FAMCXHH/file/01GZXB0F3BCQP9HK0JEFMJ5CT4Test -
5دورية أكاديمية
المؤلفون: Jackson, Adam, Lin, Sheng-Jia, Jones, Elizabeth A., Chandler, Kate E., Orr, David, Moss, Celia, Haider, Zahra, Ryan, Gavin, Holden, Simon, Harrison, Mike, Burrows, Nigel, Jones, Wendy D., Loveless, Mary, Petree, Cassidy, Stewart, Helen, Low, Karen, Donnelly, Deirdre, Lovell, Simon, Drosou, Konstantina, Varshney, Gaurav K., Banka, Siddharth, Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, 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., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, 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, Alexander, Elizabeth, 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, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, 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, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, 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, 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, Alonso García de la Rosa, F. Javier, 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, Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Rodriguez Cruz, Pedro M., 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
المساهمون: The Genomics England Research Consortium, Solve-RD consortium
المصدر: Human genetics and genomics advances ; 2666-2477
مصطلحات موضوعية: Human medicine
العلاقة: info:eu-repo/grantAgreement/EC/h2020/779257; info:eu-repo/semantics/altIdentifier/isi/000961108100001
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6دورية أكاديمية
المؤلفون: Salz, Renee, Saraiva-Agostinho, Nuno, Vorsteveld, Emil, van der Made, Caspar I., Kersten, Simone, Stemerdink, Merel, Allen, Jamie, Volders, Pieter-Jan, Hunt, Sarah E., Hoischen, Alexander, ’t Hoen, Peter A.C.
المساهمون: Nederlandse Organisatie voor Wetenschappelijk Onderzoek, European Union’s Horizon 2020 research and innovation programme
المصدر: BMC Genomics ; volume 24, issue 1 ; ISSN 1471-2164
مصطلحات موضوعية: Genetics, Biotechnology
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7دورية أكاديمية
المؤلفون: El Boujnouni, Najoua, van der Bent, M. Leontien, Willemse, Marieke, ’t Hoen, Peter A.C., Brock, Roland, Wansink, Derick G.
المساهمون: Prinses Beatrix Spierfonds
المصدر: Molecular Therapy - Nucleic Acids ; volume 32, page 622-636 ; ISSN 2162-2531
مصطلحات موضوعية: Drug Discovery, Molecular Medicine
الإتاحة: https://doi.org/10.1016/j.omtn.2023.04.010Test
https://api.elsevier.com/content/article/PII:S2162253123000963?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2162253123000963?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Rademaker, Daniel T., Koopmans, Joshua J., Thyen, Gwendolyn M.S.M., Piruska, Aigars, Huck, Wilhelm T.S., Vriend, Gert, ‘t Hoen, Peter A.C., Kooij, Taco W.A., Huynen, Martijn A., Proellochs, Nicholas I.
المصدر: iScience ; volume 26, issue 12, page 108542 ; ISSN 2589-0042
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1016/j.isci.2023.108542Test
https://api.elsevier.com/content/article/PII:S2589004223026196?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2589004223026196?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Abbassi-Daloii, Tooba, el Abdellaoui, Salma, Kan, Hermien E., van den Akker, Erik, ’t Hoen, Peter A.C., Raz, Vered, Voortman, Lenard M.
المساهمون: AFM-Téléthon, Association Française contre les Myopathies, Leids Universitair Medisch Centrum, Association française contre les myopathies, Nederlandse Organisatie voor Wetenschappelijk Onderzoek
المصدر: STAR Protocols ; volume 4, issue 1, page 102075 ; ISSN 2666-1667
مصطلحات موضوعية: General Immunology and Microbiology, General Biochemistry, Genetics and Molecular Biology, General Neuroscience
الإتاحة: https://doi.org/10.1016/j.xpro.2023.102075Test
https://api.elsevier.com/content/article/PII:S2666166723000333?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666166723000333?httpAccept=text/plainTest -
10مؤتمر
المؤلفون: Niehues, Anna, de Visser, Casper, Hagenbeek, Fiona A., Karu, Naama, Kindt, Alida S.D., Kulkarni, Purva, Pool, René, Boomsma, Dorret I., van Dongen, Jenny, van Gool, Alain J., 't Hoen, Peter A.C.
مصطلحات موضوعية: Nextflow, ISA-API, RO-Crate, Singularity, metadata
العلاقة: https://zenodo.org/record/7267444Test; https://doi.org/10.5281/zenodo.7267444Test; oai:zenodo.org:7267444
الإتاحة: https://doi.org/10.5281/zenodo.7267444Test
https://doi.org/10.3897/rio.8.e94042Test
https://doi.org/10.3897/rio.8.e94042.suppl1Test
https://doi.org/10.5281/zenodo.7266482Test
https://zenodo.org/record/7267444Test
النص الكامل