المؤلفون: Salz, Renee, Vorsteveld, Emil E., van der Made, Caspar I., Kersten, Simone, Stemerdink, Merel, Riepe, Tabea V., Hsieh, Tsung-han, Mhlanga, Musa, Netea, Mihai G., Volders, Pieter-Jan, Hoischen, Alexander, ’t Hoen, Peter A.C.

المصدر: In iScience 16 August 2024 27(8)

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: Heijmans, Bastiaan, ’t Hoen, Peter, van Meurs, Joyce, Jansen, Rick, Franke, Lude, Boomsma, Dorret, Pool, René, van Dongen, Jenny, Hottenga, Jouke, van Greevenbroek, Marleen, Stehouwer, Coen, van der Kallen, Carla, Schalkwijk, Casper, Wijmenga, Cisca, Zhernakova, Sasha, Tigchelaar, Ettje, Slagboom, P. Eline, Beekman, Marian, Deelen, Joris, Van Heemst, Diana, Veldink, Jan, van den Berg, Leonard, van Duijn, Cornelia, Hofman, Bert, Isaacs, Aaron, Uitterlinden, André, Jhamai, P. Mila, Verbiest, Michael, Suchiman, H. Eka, Verkerk, Marijn, van der Breggen, Ruud, van Rooij, Jeroen, Lakenberg, Nico, Mei, Hailiang, van Iterson, Maarten, van Galen, Michiel, Bot, Jan, Zhernakova, Dasha, van ‘t Hof, Peter, Deelen, Patrick, Nooren, Irene, Moed, Matthijs, Vermaat, Martijn, Luijk, René, Bonder, Marc, van Dijk, Freerk, Arindrarto, Wibowo, Kielbasa, Szymon, Swertz, Morris, van Zwet, Erik, Hoang, Thanh T., Lee, Yunsung, McCartney, Daniel L., Kersten, Elin T.G., Page, Christian M., Hulls, Paige M., Lee, Mikyeong, Walker, Rosie M., Breeze, Charles E., Bennett, Brian D., Burkholder, Adam B., Ward, James, Brantsæter, Anne Lise, Caspersen, Ida H., Motsinger-Reif, Alison A., Richards, Marie, White, Julie D., Zhao, Shanshan, Richmond, Rebecca C., Magnus, Maria C., Koppelman, Gerard H., Evans, Kathryn L., Marioni, Riccardo E., Håberg, Siri E., London, Stephanie J.

المصدر: In eBioMedicine February 2024 100

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: In iScience 15 December 2023 26(12)

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)

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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: El Boujnouni, Najoua, van der Bent, M. Leontien, Willemse, Marieke, ’t Hoen, Peter A.C., Brock, Roland, Wansink, Derick G.

المصدر: In Molecular Therapy - Nucleic Acids 13 June 2023 32:622-636