학술논문
'학술논문'
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1~10
Academic Journal
Abinun, Mario; Abrahamsen, Tore G.; Albert, Michael H.; Almalky, Mohamed; Altaf, Sadaf; Babayeva, Royala; Bakhtiar, Shahrzad; Baris, Safa; Baumann, Ulrich; Becker, Martina; Beier, Rita; Berger, Thomas; Biebl, Ariane; Bielack, Stefan S.; Biskup, Saskia; Bode, Sebastian FN; Borchers, Regine; Boztug, Kaan; Brockmann, Knut; Bruwier, Annelyse; Buchholz, Bernd; Caballero-Oteyza, Andres; Cant, Andrew J.; Castro, Carla N.; Classen, Carl F.; Claviez, Alexander; Crazzolara, Roman; Cuntz, Franziska; Dąbrowska-Leonik, Nel; Derichs, Ute; Dückers, Gregor; Eberl, Wolfgang; Ebetsberger-Dachs, Georg; Erlacher, Miriam; Fabre, Alexandre; Faletti, Laura; Farmand, Susan; Figueiredo, Antonio E.; Fischer, Marco; Flaadt, Tim; Full, Hermann; Gambineri, Eleonora; Girschick, Hermann; Goldacker, Sigune; Grimbacher, Bodo; Groß, Miriam; Gruhn, Bernd; Haberfellner, Florian; Hague, Rosie; Hauch, Holger; Hauck, Fabian; Heine, Sabine; Huisman, Elise J.; Jakovljevic, Gordana; James, Beki; Janda, Ales; Jones, Neil; Kaiser-Labusch, Petra; Kentouche, Karim; Knight, Julian C.; Knirsch, Stephanie; Kontny, Udo; Körholz, Julia; Krenn, Thomas; Kuehnle, Ingrid; Kühne, Thomas; Lee-Dimroth, Jae-Yun; Lehmann, Hartwig; Leipold, Alfred; Meinhardt, Andrea; Minkov, Milen; Mönkemöller, Kirsten; Morbach, Henner; Mücke, Urs; Nathrath, Michaela; Naumann-Bartsch, Nora; Neth, Olaf; Niemeyer, Charlotte M.; Olbrich, Peter; Ostró, Róbert; Owens, Stephen; Pac, Malgorzata; Pachlopnik Schmid, Jana; Page, Matthew J.T.; Pekrun, Arnulf; Prader, Seraina; Proietti, Michele; Rajacic, Nada; Rothoeft, Tobias; Ryan, Clodagh; Salou, Sarah; Salzer, Elisabeth; Savic, Sinisa; Schilling, Freimut H.; Schönberger, Stefan; Schuetz, Catharina; Schuez-Havupalo, Linnea; Schulte, Björn; Schulz, Ansgar; Schuster, Volker; Seidel, Markus G.; Siepermann, Kathrin; Skomska-Pawliszak, Malgorzata; Smisek, Petr; Soomann, Maarja; Stiefel, Martina; Storck, Simone; Strahm, Brigitte; Streiter, Monika; Teltschik, Heiko-Manuel; Thalhammer, Julian; Tippelt, Stephan; Toskov, Vasil; Trück, Johannes; Vieth, Simon; von Bismarck, Philipp; Wegehaupt, Oliver; Wiesel, Thomas; Wittkowski, Helmut; Yalcin Gungoren, Ezgi; Hägele, Pauline; Staus, Paulina; Scheible, Raphael; Uhlmann, Annette; Heeg, Maximilian; Klemann, Christian; Maccari, Maria Elena; Ritterbusch, Henrike; Armstrong, Martin; Cutcutache, Ioana; Elliott, Katherine S; von Bernuth, Horst; Leahy, Timothy Ronan; Leyh, Jörg; Holzinger, Dirk; Lehmberg, Kai; Svec, Peter; Masjosthusmann, Katja; Hambleton, Sophie; Jakob, Marcus; Sparber-Sauer, Monika; Kager, Leo; Puzik, Alexander; Wolkewitz, Martin; Lorenz, Myriam Ricarda; Schwarz, Klaus; Speckmann, Carsten; Rensing-Ehl, Anne ; Ehl, Stephan
In The Lancet Haematology February 2024 11(2):e114-e126
Academic Journal
Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lakey, Anna; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Mitchell, Jonathan; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Perez-Gil, Daniel; Pereira, Marina B.; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo
In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
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
Kammermeier, Jochen; Lamb, Christopher A; Jones, Kelsey D J; Anderson, Carl A; Baple, Emma L; Bolton, Chrissy; Braggins, Helen; Coulter, Tanya I; Gilmour, Kimberly C; Gregory, Vicki; Hambleton, Sophie; Hartley, David; Hawthorne, A Barney; Hearn, Sarah; Laurence, Arian; Parkes, Miles; Russell, Richard K; Speight, R Alexander; Travis, Simon; Wilson, David C; Uhlig, Holm H
In The Lancet Gastroenterology & Hepatology March 2023 8(3):271-286
Academic Journal
Lum, Su Han ; Greener, Sinéad; Perez-Heras, Inigo; Drozdov, Daniel; Payne, Rebecca P.; Watson, Helen; Carruthers, Kay; January, Robert; Nademi, Zohreh; Owens, Stephen; Williams, Eleri; Waugh, Sheila; Burton-Fanning, Shirelle; Leahy, Timmothy Ronan; Cant, Andrew; Abinun, Mario; Flood, Terry; Hambleton, Sophie; Gennery, Andrew R. ; Slatter, Mary
In Blood Advances 22 February 2022 6(4):1319-1328
Academic Journal
Lum, Su Han; James, Beki; Ottaviano, Giorgio; Ewins, Anna-Maria; Patrick, Katharine; Ali, Salah; Carpenter, Ben; Silva, Juliana; Tewari, Sanjay; Furness, Caroline; Thomas, Arun; Shenton, Geoff; Bonney, Denise; Moppett, John; Hambleton, Sophie; Gennery, Andrew R; Amrolia, Persis; Gibson, Brenda; Hough, Rachael; Rao, Kanchan; Slatter, Mary; Wynn, Robert
In Transplantation and Cellular Therapy March 2024 30(3):314-314
Academic Journal
Krishna, Mamidipudi Thirumala; Beck, Sarah; Gribbin, Nathan; Nasser, Shuaib; Turner, Paul J.; Hambleton, Sophie; Sargur, Ravishankar; Whyte, Andrew; Bethune, Claire
In The Journal of Allergy and Clinical Immunology: In Practice February 2021 9(2):709-722
Academic Journal
Ramanathan, Subramaniam; Lum, Su Han; Nademi, Zohreh; Carruthers, Kayleigh; Watson, Helen; Flood, Terence; Owens, Stephen; Williams, Eleri; Hambleton, Sophie; Gennery, Andrew R.; Slatter, Mary
In Transplantation and Cellular Therapy August 2023 29(8):513-513
Academic Journal
Cytlak, Urszula; Resteu, Anastasia; Pagan, Sarah; Green, Kile; Milne, Paul; Maisuria, Sheetal; McDonald, David; Hulme, Gillian; Filby, Andrew; Carpenter, Benjamin; Queen, Rachel; Hambleton, Sophie; Hague, Rosie; Lango Allen, Hana; Thaventhiran, James E.D.; Doody, Gina; Collin, Matthew; Bigley, Venetia
In Immunity 18 August 2020 53(2):353-370
Outcome of autoimmune cytopenia after hematopoietic cell transplantation in primary immunodeficiency
Academic Journal
Lum, Su Han; Selvarajah, Sabeena; Deya-Martinez, Angela; McNaughton, Peter; Sobh, Ali; Waugh, Sheila; Burton-Fanning, Shirelle; Newton, Lisa; Gandy, Julie; Nademi, Zohreh; Owens, Stephen; Williams, Eleri; Emonts, Marieke; Flood, Terry; Cant, Andrew; Abinun, Mario; Hambleton, Sophie; Gennery, Andrew R.; Slatter, Mary
In The Journal of Allergy and Clinical Immunology August 2020 146(2):406-416
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