학술논문
'학술논문'
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1~10
Academic Journal
Abbott, Kristin M.; Banka, Siddharth; de Boer, Elke; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Gilissen, Christian; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jackson, Adam; Kerstjens, Mieke; Kleefstra, Tjitske; Martín, Estrella López; Macek, Milan, Jr.; Matalonga, Leslie; Maystadt, Isabelle; Morleo, Manuela; Nigro, Vicenzo; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca C.; Renieri, Alessandra; Riess, Olaf; Rooryck, Caroline; Ryba, Lukas; Agathe, Jean-Madeleine de Sainte; Santen, Gijs W.E.; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Trimouille, Aurélien; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; 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; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; 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.; Vissers, Lisenka E.L.M.; 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; Duffourd, Yannis; Bruel, Ange-Line; 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; Radio, Francesca Clementina; 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; Fallerini, Chiara; Benetti, Elisa; 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; Jean-Marçais, Nolwenn; López-Martín, Estrella; Macek, Milan; Mencarelli, Maria Antonietta; Moutton, Sébastien; Pfundt, Rolph; Safraou, Hana; Thauvin-Robinet, Christel; Thevenon, Julien; Tran Mau-Them, Frédéric; de Vries, Bert B.A.; Willemsen, Marjolein H.; Philippe, Christophe
In Genetics in Medicine April 2023 25(4)
Academic Journal
Mehic, Dino; Tolios, Alexander; Hofer, Stefanie; Ay, Cihan; Haslacher, Helmuth; Rejtö, Judit; Ouwehand, Willem H.; Downes, Kate; Haimel, Matthias; Pabinger, Ingrid; Gebhart, Johanna
In Blood Advances 26 January 2021 5(2):391-398
Academic Journal
Downes, Kate ; Megy, Karyn ; Duarte, Daniel ; Vries, Minka ; Gebhart, Johanna ; Hofer, Stefanie ; Shamardina, Olga ; Deevi, Sri V.V. ; Stephens, Jonathan ; Mapeta, Rutendo ; Tuna, Salih ; Al Hasso, Namir ; Besser, Martin W. ; Cooper, Nichola ; Daugherty, Louise ; Gleadall, Nick ; Greene, Daniel ; Haimel, Matthias ; Martin, Howard ; Papadia, Sofia ; Revel-Vilk, Shoshana ; Sivapalaratnam, Suthesh ; Symington, Emily ; Thomas, Will ; Thys, Chantal ; Tolios, Alexander ; Penkett, Christopher J. ; Ouwehand, Willem H. ; Abbs, Stephen ; Laffan, Michael A. ; Turro, Ernest ; Simeoni, Ilenia ; Mumford, Andrew D. ; Henskens, Yvonne M.C. ; Pabinger, Ingrid ; Gomez, Keith ; Freson, Kathleen
In Blood 5 December 2019 134(23):2082-2091
Academic Journal
Rhodes, Christopher J; Batai, Ken; Bleda, Marta; Haimel, Matthias; Southgate, Laura; Germain, Marine; Pauciulo, Michael W; Hadinnapola, Charaka; Aman, Jurjan; Girerd, Barbara; Arora, Amit; Knight, Jo; Hanscombe, Ken B; Karnes, Jason H; Kaakinen, Marika; Gall, Henning; Ulrich, Anna; Harbaum, Lars; Cebola, Inês; Ferrer, Jorge; Lutz, Katie; Swietlik, Emilia M; Ahmad, Ferhaan; Amouyel, Philippe; Archer, Stephen L; Argula, Rahul; Austin, Eric D; Badesch, David; Bakshi, Sahil; Barnett, Christopher; Benza, Raymond; Bhatt, Nitin; Bogaard, Harm J; Burger, Charles D; Chakinala, Murali; Church, Colin; Coghlan, John G; Condliffe, Robin; Corris, Paul A; Danesino, Cesare; Debette, Stéphanie; Elliott, C Gregory; Elwing, Jean; Eyries, Melanie; Fortin, Terry; Franke, Andre; Frantz, Robert P; Frost, Adaani; Garcia, Joe G N; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, J Simon R; Harley, John; He, Hua; Hill, Nicholas S; Hirsch, Russel; Houweling, Arjan C; Howard, Luke S; Ivy, Dunbar; Kiely, David G; Klinger, James; Kovacs, Gabor; Lahm, Tim; Laudes, Matthias; Machado, Rajiv D; MacKenzie Ross, Robert V; Marsolo, Keith; Martin, Lisa J; Moledina, Shahin; Montani, David; Nathan, Steven D; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Oudiz, Ronald J; Ouwehand, Willem H; Peacock, Andrew J; Pepke-Zaba, Joanna; Rehman, Zia; Robbins, Ivan; Roden, Dan M; Rosenzweig, Erika B; Saydain, Ghulam; Scelsi, Laura; Schilz, Robert; Seeger, Werner; Shaffer, Christian M; Simms, Robert W; Simon, Marc; Sitbon, Olivier; Suntharalingam, Jay; Tang, Haiyang; Tchourbanov, Alexander Y; Thenappan, Thenappan; Torres, Fernando; Toshner, Mark R; Treacy, Carmen M; Vonk Noordegraaf, Anton; Waisfisz, Quinten; Walsworth, Anna K; Walter, Robert E; Wharton, John; White, R James; Wilt, Jeffrey; Wort, Stephen J; Yung, Delphine; Lawrie, Allan; Humbert, Marc; Soubrier, Florent; Trégouët, David-Alexandre; Prokopenko, Inga; Kittles, Richard; Gräf, Stefan; Nichols, William C; Trembath, Richard C; Desai, Ankit A; Morrell, Nicholas W; Wilkins, Martin R
In The Lancet Respiratory Medicine March 2019 7(3):227-238
Academic Journal
Shahin, Tala ; Mayr, Daniel ; Shoeb, Mohamed R.; Kuehn, Hye Sun; Hoeger, Birgit; Giuliani, Sarah; Gawriyski, Lisa M.; Petronczki, Özlem Yüce; Hadjadj, Jérôme; Bal, Sevgi Köstel; Zoghi, Samaneh; Haimel, Matthias; Jimenez Heredia, Raul; Boutboul, David; Triebwasser, Michael P.; Rialland-Battisti, Fanny; Costedoat Chalumeau, Nathalie; Quartier, Pierre; Tangye, Stuart G.; Fleisher, Thomas A.; Rezaei, Nima; Romberg, Neil; Latour, Sylvain ; Varjosalo, Markku ; Halbritter, Florian ; Rieux-Laucat, Frédéric ; Castanon, Irinka ; Rosenzweig, Sergio D. ; Boztug, Kaan
In Blood Advances 12 April 2022 6(7):2444-2451
Academic Journal
Danis, Daniel; Jacobsen, Julius OB; Balachandran, Parithi; Zhu, Qihui; Yilmaz, Feyza; Reese, Justin; Haimel, Matthias; Lyon, Gholson J; Helbig, Ingo; Mungall, Christopher J; Beck, Christine R; Lee, Charles; Smedley, Damian; Robinson, Peter N
Genome Medicine. 14(1)
Academic Journal
Kager, Leo; Jimenez-Heredia, Raúl; Zeitlhofer, Petra; Novak, Wolfgang; Eder, Sebastian K.; Segarra-Roca, Anna; Frohne, Alexandra; Nebral, Karin; Haimel, Matthias; Geyeregger, René; Roetzer-Londgin, Katharina; Haas, Oskar A.; Boztug, Kaan
HemaSphere; Jan2024, Vol. 8 Issue 1, p1-6, 6p
Academic Journal
Mehic, Dino; Tolios, Alexander; Hofer, Stefanie; Ay, Cihan; Haslacher, Helmuth; Downes, Kate; Haimel, Matthias; Pabinger, Ingrid; Gebhart, Johanna
Academic Journal
Maassen, Willem; Legger, Geertje; Cinar, Ovgu Kul; van Daele, Paul; Gattorno, Marco; Bader-Meunier, Brigitte; Wouters, Carine; Briggs, Tracy; Johansson, Lennart; van der Velde, Joeri; Swertz, Morris; Omoyinmi, Ebun; Hoppenreijs, Esther; Belot, Alexandre; Eleftheriou, Despina; Caorsi, Roberta; Aeschlimann, Florence; Boursier, Guilaine; Brogan, Paul; Haimel, Matthias
Frontiers in Immunology; 2023, p1-9, 9p
Academic Journal
Köhler, Sebastian; Gargano, Michael; Matentzoglu, Nicolas; Carmody, Leigh C; Lewis-Smith, David; Vasilevsky, Nicole A; Danis, Daniel; Balagura, Ganna; Baynam, Gareth; Brower, Amy M; Callahan, Tiffany J; Chute, Christopher G; Est, Johanna L; Galer, Peter D; Ganesan, Shiva; Griese, Matthias; Haimel, Matthias; Pazmandi, Julia; Hanauer, Marc; Harris, Nomi L; Hartnett, Michael J; Hastreiter, Maximilian; Hauck, Fabian; He, Yongqun; Jeske, Tim; Kearney, Hugh; Kindle, Gerhard; Klein, Christoph; Knoflach, Katrin; Krause, Roland; Lagorce, David; McMurry, Julie A; Miller, Jillian A; Munoz-Torres, Monica C; Peters, Rebecca L; Rapp, Christina K; Rath, Ana M; Rind, Shahmir A; Rosenberg, Avi Z; Segal, Michael M; Seidel, Markus G; Smedley, Damian; Talmy, Tomer; Thomas, Yarlalu; Wiafe, Samuel A; Xian, Julie; Yüksel, Zafer; Helbig, Ingo; Mungall, Christopher J; Haendel, Melissa A; Robinson, Peter N
Nucleic Acids Research. 49(D1)
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