المؤلفون: Fuchs, Kyra J., van de Meent, Marian, Honders, M. Willy, Khatri, Indu, Kester, Michel G. D., Koster, Eva A. S., Koutsoumpli, Georgia, de Ru, Arnoud H., van Bergen, Cornelis A. M., van Veelen, Peter A., ’t Hoen, Peter A. C., van Balen, Peter, van den Akker, Erik B., Veelken, J. Hendrik, Halkes, Constantijn J. M., Falkenburg, J. H. Frederik, Griffioen, Marieke

المصدر: In Blood 2 May 2024 143(18):1856-1872

المؤلفون: Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvo, Alberto, Fernandez-Callejo, Marcos, Garcia-Linares, Carles, Hernandez-Ferrer, Carles, Luengo, Cristina, Martinez, Ines, Papakonstantinou, Anastasios, Pico-Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayes, Monica, Bullich, Gemma, Camps-Puchadas, Jordi, Paramonov, Ida, Trotta, Jean-Remi, Alonso, Angel, Attimonelli, Marcella, Beroud, Christophe, Bros-Facer, Virginie, Buske, Orion J., Canada-Pallares, Andres, Fernandez, Jose M., Hansson, Mats G., 1952, Horvath, Rita, Jacobsen, Julius O. B., Kaliyaperumal, Rajaram, Lair-Preterre, Severine, Licata, Luana, Lopes, Pedro, Lopez-Martin, Estrella, Mascalzoni, Deborah, 1973, Monaco, Lucia, Perez-Jurado, Luis A., Posada de la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N., Salgado, David, Smedley, Damian, Spalding, Dylan, 't Hoen, Peter A. C., Topf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G., Lochmuller, Hanns, Beltran, Sergi

المصدر: Human Mutation. 43(6):717-733

مصطلحات موضوعية: data sharing, data standardization, diagnostics, genome analysis, NGS, patient matchmaking, rare diseases

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-476113
https://doi.org/10.1002/humu.24353
https://uu.diva-portal.org/smash/get/diva2:1666087/FULLTEXT01.pdf

المؤلفون: Núñez-Carpintero, Iker, Rigau, Maria^{Aff1, Aff2, Aff3}, Bosio, Mattia^{Aff1, Aff4}, O’Connor, Emily^{Aff5, Aff6}, Spendiff, Sally, Azuma, Yoshiteru^{Aff7, Aff8}, Topf, Ana^{Aff9, Aff10}, Thompson, Rachel, ’t Hoen, Peter A. C., Chamova, Teodora, Tournev, Ivailo^{Aff12, Aff13}, Guergueltcheva, Velina, Laurie, Steven, Beltran, Sergi^{Aff15, Aff16, Aff17}, Capella-Gutiérrez, Salvador^{Aff1, Aff4}, Cirillo, Davide^{Aff1, IDs41467024450990_cor16}, Lochmüller, Hanns^{Aff5, Aff6, Aff15, Aff18, Aff19}, Valencia, Alfonso^{Aff1, Aff4, Aff20}

المصدر: Nature Communications. 15(1)

المؤلفون: Atalaia, Antonio^{Aff1, IDs13023024030593_cor1}, Wandrei, Dagmar, Lalout, Nawel^{Aff3, Aff4}, Thompson, Rachel, Tassoni, Adrian, ’t Hoen, Peter A. C., Athanasiou, Dimitrios, Baker, Suzie-Ann, Sakellariou, Paraskevi, Paliouras, Georgios, D’Angelo, Carla, Horvath, 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 G. J., de Visser, Marianne, Claeys, Kristl G., Paradas, Carmen, Toscano, Antonio, Silani, Vincenzo, Gyenge, Melinda, Reviers, Evy, Hamroun, Dalil, Vroom, Elisabeth, Wilkinson, Mark D., Lochmuller, Hanns^{Aff5, Aff13}, Evangelista, Teresinha

المصدر: Orphanet Journal of Rare Diseases. 19(1)

المؤلفون: Dai, Qile, Zhou, Geyu, Zhao, Hongyu, Võsa, Urmo, Franke, Lude, Battle, Alexis, Teumer, Alexander, Lehtimäki, Terho, Raitakari, Olli T., Esko, Tõnu, Agbessi, Mawussé, Ahsan, Habibul, Alves, Isabel, Andiappan, Anand Kumar, Arindrarto, Wibowo, Awadalla, Philip, Beutner, Frank, Jan Bonder, Marc, Boomsma, Dorret I., Christiansen, Mark W., Claringbould, Annique, Deelen, Patrick, Favé, Marie-Julie, Frayling, Timothy, Gharib, Sina A., Gibson, Greg, Heijmans, Bastiaan T., Hemani, Gibran, Jansen, Rick, Kähönen, Mika, Kalnapenkis, Anette, Kasela, Silva, Kettunen, Johannes, Kim, Yungil, Kirsten, Holger, Kovacs, Peter, Krohn, Knut, Kronberg, Jaanika, Kukushkina, Viktorija, Kutalik, Zoltan, Lee, Bernett, Loeffler, Markus, Marigorta, Urko M., Mei, Hailang, Milani, Lili, Montgomery, Grant W., Müller-Nurasyid, Martina, Nauck, Matthias, Nivard, Michel G., Penninx, Brenda, Perola, Markus, Pervjakova, Natalia, Pierce, Brandon L., Powell, Joseph, Prokisch, Holger, Psaty, Bruce M., Ripatti, Samuli, Rotzschke, Olaf, Rüeger, Sina, Saha, Ashis, Scholz, Markus, Schramm, Katharina, Seppälä, Ilkka, Slagboom, Eline P., Stehouwer, Coen D. A., Stumvoll, Michael, Sullivan, Patrick, ‘t Hoen, Peter A. C., Thiery, Joachim, Tong, Lin, Tönjes, Anke, van Dongen, Jenny, van Iterson, Maarten, van Meurs, Joyce, Veldink, Jan H., Verlouw, Joost, Visscher, Peter M., Völker, Uwe, Westra, Harm-Jan, Wijmenga, Cisca, Yaghootkar, Hanieh, Yang, Jian, Zeng, Biao, Zhang, Futao, Epstein, Michael P., Yang, Jingjing

المصدر: Nature Communications. 14(1)

مصطلحات موضوعية: Medical Engineering, Medicinsk teknik

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:ltu:diva-96339
https://doi.org/10.1038/s41467-023-36862-w
https://ltu.diva-portal.org/smash/get/diva2:1749339/FULLTEXT01.pdf

المؤلفون: van Cruchten, Remco T. P., van As, Daniël^{Aff1, Aff2}, Glennon, Jeffrey C., van Engelen, Baziel G. M., ‘t Hoen, Peter A. C.^{Aff1, IDs1291602202591y_cor5}

المصدر: BMC Medicine. 20(1)

المؤلفون: van der Velde, K. Joeri^{Aff1, Aff2}, Singh, Gurnoor, Kaliyaperumal, Rajaram, Liao, XiaoFeng, de Ridder, Sander, Rebers, Susanne, Kerstens, Hindrik H. D., de Andrade, Fernanda, van Reeuwijk, Jeroen, De Gruyter, Fini E., Hiltemann, Saskia, Ligtvoet, Maarten, Weiss, Marjan M., van Deutekom, Hanneke W. M., Jansen, Anne M. L., Stubbs, Andrew P., Vissers, Lisenka E. L. M., Laros, Jeroen F. J.^{Aff4, Aff14, Aff15}, van Enckevort, Esther, Stemkens, Daphne, ‘t Hoen, Peter A. C., Beliën, Jeroen A. M., van Gijn, Mariëlle E., Swertz, Morris A.^{Aff1, Aff2, IDs4159702201265x_cor24}

المصدر: Scientific Data. 9(1)

المؤلفون: dos Santos Vieira, Bruna^{Aff1, Aff2}, Bernabé, César H., Zhang, Shuxin^{Aff4, Aff5}, Abaza, Haitham, Benis, Nirupama^{Aff4, Aff5}, Cámara, Alberto, Cornet, Ronald^{Aff4, Aff5}, Le Cornec, Clémence M. A., ’t Hoen, Peter A. C., Schaefer, Franz, van der Velde, K. Joeri, Swertz, Morris A., Wilkinson, Mark D., Jacobsen, Annika^{Aff3, IDs13023022025585_cor14}, Roos, Marco^{Aff3, IDs13023022025585_cor15}

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: Oldoni, Emanuela, Saunders, Gary, Bietrix, Florence, Garcia Bermejo, Maria Laura, Niehues, Anna, 't Hoen, Peter A C, Nordlund, Jessica, Hajduch, Marian, Scherer, Andreas, Kivinen, Katja, Pitkänen, Esa, Mäkela, Tomi Pekka, Gut, Ivo, Scollen, Serena, Kozera, Łukasz, Esteller, Manel, Shi, Leming, Ussi, Anton, Andreu, Antonio L, van Gool, Alain J

المصدر: Frontiers in Molecular Biosciences. 9

مصطلحات موضوعية: EU initiatives, bottlenecks in health data, multi-omics, personalised medicine, research infrastructures, translational medicine

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-488647
https://doi.org/10.3389/fmolb.2022.974799
https://uu.diva-portal.org/smash/get/diva2:1712143/FULLTEXT01.pdf

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