학술논문
전자자료 공정이용 안내
우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
전자자료의 비정상적 이용은 출판사로부터의 경고, 서비스 차단, 손해배상 청구 등 학교 전체에 심각한 불이익을 초래할 수 있으므로, 아래의 공정이용 지침을 반드시 준수해 주시기 바랍니다.
공정이용 지침
- 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
- 합리적인 수준의 다운로드 및 출력만 허용됩니다. (일반적으로 동일 PC에서 동일 출판사의 논문을 1일 30건 이하 다운로드할 것을 권장하며, 출판사별 기준에 따라 다를 수 있습니다.)
- 출판사에서 제공한 논문의 URL을 수업 관련 웹사이트에 게재할 수 있으나, 출판사 원문 파일 자체를 복제·배포해서는 안 됩니다.
- 본인의 ID/PW를 타인에게 제공하지 말고, 도용되지 않도록 철저히 관리해 주시기 바랍니다.
불공정 이용 사례
- 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
- 동일 컴퓨터 또는 동일 IP에서 단시간 내 다수의 원문을 집중적으로 다운로드하거나, 전권(whole issue) 다운로드
- 저장·출력한 자료를 타인에게 배포하거나 개인 블로그·웹하드 등에 업로드
- 상업적·영리적 목적으로 자료를 전송·복제·활용
- ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
- EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
- 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
- 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
- 출판사 배상 요구 시 위반자 개인이 배상 책임 부담
'학술논문'
에서 검색결과 804건 | 목록
1~20
Academic Journal
Rao, Geetha; Mack, Corinne D.; Nguyen, Tina; Wong, Natalie; Payne, Kathryn; Worley, Lisa; Gray, Paul E.; Wong, Melanie; Hsu, Peter; Stormon, Michael O.; Preece, Kahn; Suan, Daniel; O'Sullivan, Michael; Blincoe, Annaliesse K.; Sinclair, Jan; Okada, Satoshi; Hambleton, Sophie; Arkwright, Peter D.; Boztug, Kaan; Stepensky, Polina; Cooper, Megan A.; Bezrodnik, Liliana; Nadeau, Kari C.; Abolhassani, Hassan; Abraham, Roshini S.; Seppanen, Mikko R.J.; Beziat, Vivien; Bustamante, Jacinta; Forbes, Lisa R.; Leiding, Jennifer W.; Meyts, Isabelle; Jouanguy, Emmanuelle; Boisson-Dupuis, Stephanie; Uzel, Gulbu; Puel, Anne; Casanova, Jean-Laurent; Tangye, Stuart G.; Ma, Cindy S.
Journal of Allergy and Clinical Immunology. 155:1161-1178
Academic Journal
Walsh, Rebecca B.; McNaughton, Peter; Nademi, Zohreh; Laberko, Alexandra; Balashov, Dmitry; Al-Mousa, Hamoud; Arkwright, Peter D.; Wynn, Robert F.; Flood, Terry; Williams, Eleri; Cant, Andrew; Abinun, Mario; Hambleton, Sophie; Slatter, Mary; Gennery, Andrew R.; Lum, Su Han; Owens, Stephen
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 45(1)
Academic Journal
Mantoan Ritter, Laura; Annear, Nicholas M. P.; Baple, Emma L.; Ben-Chaabane, Leila Y.; Bodi, Istvan; Brosson, Lauren; Cadwgan, Jill E.; Coslett, Bryn; Crosby, Andrew H.; Davies, D. Mark; Daykin, Nicola; Dedeurwaerdere, Stefanie; Dühring Fenger, Christina; Dunlop, Elaine A.; Elmslie, Frances V.; Girodengo, Marie; Hambleton, Sophie; Jansen, Anna C.; Johnson, Simon R.; Kearley, Kelly C.; Kingswood, John C.; Laaniste, Liisi; Lachlan, Katherine; Latchford, Andrew; Madsen, Ralitsa R.; Mansour, Sahar; Mihaylov, Simeon R.; Muhammed, Louwai; Oliver, Claire; Pepper, Tom; Rawlins, Lettie E.; Schim van der Loeff, Ina; Siddiqui, Ata; Takhar, Pooja; Tatton-Brown, Katrina; Tee, Andrew R.; Tibarewal, Priyanka; Tye, Charlotte; Ultanir, Sila K.; Vanhaesebroeck, Bart; Zare, Benjamin; Pal, Deb K.; Bateman, Joseph M.
Orphanet Journal of Rare Diseases. 20(1)
Academic Journal
Cipriani, Valentina; Vestito, Letizia; Magavern, Emma F.; Jacobsen, Julius O. B.; Arno, Gavin; Behr, Elijah R.; Benson, Katherine A.; Bertoli, Marta; Bockenhauer, Detlef; Bowl, Michael R.; Burley, Kate; Chan, Li F.; Chinnery, Patrick; Conlon, Peter J.; Costa, Marcos A.; Davidson, Alice E.; Dawson, Sally J.; Elhassan, Elhussein A. E.; Flanagan, Sarah E.; Futema, Marta; Gale, Daniel P.; García-Ruiz, Sonia; Corcia, Cecilia Gonzalez; Griffin, Helen R.; Hambleton, Sophie; Hicks, Amy R.; Houlden, Henry; Houlston, Richard S.; Howles, Sarah A.; Kleta, Robert; Lekkerkerker, Iris; Lin, Siying; Liskova, Petra; Mitchison, Hannah H.; Morsy, Heba; Mumford, Andrew D.; Newman, William G.; Neatu, Ruxandra; O’Toole, Edel A.; Ong, Albert C. M.; Pagnamenta, Alistair T.; Rahman, Shamima; Rajan, Neil; Robinson, Peter N.; Ryten, Mina; Sadeghi-Alavijeh, Omid; Sayer, John A.; Shovlin, Claire L.; Taylor, Jenny C.; Teltsh, Omri; Tomlinson, Ian; Tucci, Arianna; Turnbull, Clare; van Eerde, Albertien M.; Ware, James S.; Watts, Laura M.; Webster, Andrew R.; Westbury, Sarah K.; Zheng, Sean L.; Caulfield, Mark; Smedley, Damian
Nature: International weekly journal of science. :1-9
Academic Journal
van der Made, Caspar I.; Kersten, Simone; Chorin, Odelia; Engelhardt, Karin R.; Ramakrishnan, Gayatri; Griffin, Helen; Schim van der Loeff, Ina; Venselaar, Hanka; Rothschild, Annick Raas; Segev, Meirav; Schuurs-Hoeijmakers, Janneke H.M.; Mantere, Tuomo; Essers, Rick; Esteki, Masoud Zamani; Avital, Amir L.; Loo, Peh Sun; Simons, Annet; Pfundt, Rolph; Warris, Adilia; Seyger, Marieke M.; van de Veerdonk, Frank L.; Netea, Mihai G.; Slatter, Mary A.; Flood, Terry; Gennery, Andrew R.; Simon, Amos J.; Lev, Atar; Frizinsky, Shirley; Barel, Ortal; van der Burg, Mirjam; Somech, Raz; Hambleton, Sophie; Henriet, Stefanie S.V.; Hoischen, Alexander
American Journal of Human Genetics, 111, 4, pp. 791-804
The American Journal of Human Genetics
The American Journal of Human Genetics
Academic Journal
Jackson, Adam; Verloes, Alain; Corvo, Alberto; Ferlini, Alessandra; Costa, Alessia; Hoischen, Alexander; Durr, Alexandra; Krebsová, Alice; Metcalfe, Alison; Rath, Ana; Töpf, Ana; Papakonstantinou, Anastasios; Traschütz, Andreas; Bruel, Ange-Line; Codina, Anna Esteve; Heinzmann, Anna; Sommer, Anna Katharina; Sarkozy, Anna; Torella, Annalaura; Denommé-Pichon, Anne-Sophie; Brookes, Anthony J.; Atalaia, Antonio; Vitobello, Antonio; Resch, Baptist; van de Warrenburg, Bart; van der Sanden, Bart; Zurek, Birte; Keren, Boris; Eymard, Bruno; Yaldiz, Burcu; Oliveira, Carla; Hernández, Carles; Wilke, Carlo; Lucano, Caterina; José, Celina São; Millevert, Charissa; Bettolo, Chiara Marini; Thauvin, Christel; Boßelmann, Christian; Gilissen, Christian; Davoine, Claire-Sophie; Thomas, Coline; Metay, Corinne; Mignot, Cyril; Thomasová, Dana; Danis, Daniel; Picó, Daniel; Beijer, Danique; Lagorce, David; Ruvolo, David; Piscia, Davide; Sukumaran, Deepthi; Heron, Delphine; Roelofs-Prins, Dieuwke; Spalding, Dylan; Cali, Elisa; Alexander, Elizabeth; de Boer, Elke; Raineri, Emanuele; Lebreton, Emeline; Cohen, Enzo; Janssen, Erik; Kamsteeg, Erik-Jan; Zonneveld-Huijssoon, Eveline; Carneiro, Fátima; Gualandi, Francesca; Magrinelli, Francesca; Muntoni, Francesco; de Vries, Geert; Bullich, Gemma; van der Vries, Gerben; Demidov, German; Stevanin, Giovanni; Bonne, Gisèle; Coarelli, Giulia; Piluso, Giulio; Robert, Glenn; Warren, Greg; Gumus, Gulcin; Brunner, Han; Stamberger, Hannah; Scheffer, Hans; Morsy, Heba; Parkinson, Helen; Houlden, Henry; Hengel, Holger; Lerche, Holger; Graessner, Holm; Paramonov, Ida; Kolen, Ingrid; Gullo, Irene; Zaharieva, Irina; Paske, Iris te; Spier, Isabel; Nelson, Isabelle; Gut, Ivo Glynne; Vandrovcova, Jana; Agathe, Jean-Madeleine de Sainte; Clayton-Smith, Jill; Xu, Jishu; van der Velde, Joeri K.; Baets, Jonathan; De Winter, Jonathan; Rohrer, Jonathan; Park, Joohyun; Manera, Jordi Diaz; Garcia-Pelaez, Jose; Kegele, Josua; Schulze-Hentrich, Julia M.; Müller, Juliane; Engelhardt, Karin; Sablauskas, Karolis; Ellwanger, Kornelia; Neveling, Kornelia; Abbott, Kristin M.; Faivre, Laurence; Guillot-Noel, Léna; Johansson, Lennart; Schütz, Leon; Matalonga, Leslie; Van de Vondel, Liedewei; Vissers, Lisenka E.L.M.; Schöls, Ludger; Ryba, Lukáš; Perry, Luke; Garrido, Luzia; Sagath, Lydia; Freeberg, Mallory; Morleo, Manuela; Dabad, Marc; Hanauer, Marc; Sturm, Marc; Neri, Marcella; Fernandez-Callejo, Marcos; Turnovec, Marek; Zanobio, Mariateresa; van Gijn, Marielle; Havlovicová, Markéta; Steehouwer, Marloes; Chahdil, Maroua; Ferreira, Marta; Gut, Marta; Reilly, Mary; Synofzik, Matthis; Kellner, Melanie; Pinelli, Michele; Hanna, Mike; Macek, Milan, Jr.; Swertz, Morris A.; Hoogerbrugge, Nicoline; van Os, Nienke; Smal, Noor; Riess, Olaf; Hongnat, Oscar; Moloney, Patrick; Doležalová, Pavla; Ferreira, Pedro; ’t Hoen, Peter A.C.; de Jonghe, Peter; Heutink, Peter; Robinson, Peter; Lišková, Petra; Neerincx, Pieter B.; Ben Yaou, Rabah; Kremliková, Radka Pourová; Bellampalli, Ravishankara; Schüle, Rebecca; Moore, Richard; de Voer, Richarda M.; Barbosa-Matos, Rita; Selvatici, Rita; Lauerer-Braun, Robert; Zeuli, Roberta; Abadijou, Sadegh; Nalagandla, Sai Anuhya; Banfi, Sandro; Sisodiya, Sanjay M.; Weckhuysen, Sarah; Köhler, Sebastian; Beltran, Sergi; Drunat, Séverine; Banka, Siddharth; Peters, Sophia; Hambleton, Sophie; Gibson, Spencer; Aretz, Stefan; Bigoni, Stefania; Lauxmann, Stephan; Ossowski, Stephan; Efthymiou, Stephanie; Laurie, Steven; Fernandes, Susana; Stojkovic, Tanya; Evangelista, Teresinha; Keane, Thomas; Kleefstra, Tjitske; Haack, Tobias B.; Riaz, Umar; Allamand, Valérie; Franková, Vera; Pini, Veronica; Couturier, Victor; Timmerman, Vincent; Nigro, Vincenzo; Bros-Facer, Virginie; Straub, Volker; Kerstjens Frederikse, Wilhemina S.; De Ridder, Willem; Steyaert, Wouter; Duffourd, Yannis; Wang, Yunze Patrick; Maver, Ales; Renieri, Alessandra; Münchau, Alexander; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Ciolfi, Andrea; Laner, Andreas; Roos, Andreas; Rump, Andreas; Garcia de Oteyza, Andrés Caballero; Osorio, Andrés Nascimento; Marcé-Grau, Anna; Destrée, Anne; Riva, Antonella; Evangeliou, Athanasios; Trimouille, Aurelien; Başak, Ayşe Nazlı; Dermaut, Bart; Delgado, Beatriz Martínez; Pérez-Dueñas, Belén; Estevez, Berta; Udd, Bjarne; Grimbacher, Bodo; Peterlin, Borut; Poppe, Bruce; Wirth, Brunhilde; Dallapiccola, Bruno; Rooryck, Caroline; Olimpio, Catarina; Depondt, Chantal; Fallerini, Chiara; Depienne, Christel; Korff, Christian; Mertes, Christian; Ruivenkamp, Claudia A.L.; Meunier, Colombine; Lederer, Damien; Natera de Benito, Daniel; Beeson, David; Webb, David; Mei, Davide; Karadurmus, Deniz; Lacombe, Didier; Hemelsoet, Dimitri; Parrini, Elena; Kapaki, Elisabeth; Bogaert, Elke; Holinski-Feder, Elke; Leitão, Elsa; Bijlsma, Emilia K.; Van Nieuwenhove, Erika; Martín, Estrella López; Sánchez, Eva Bermejo; Bouveret, Eva Hammar; Schröck, Evelin; Carpancea, Evelina; Kokosali, Evgenia; Zara, Federico; Privitera, Flavia; Radio, Francesca Clementina; Munell, Francina; Alonso García de la Rosa, Francisco Javier; Masclaux, Frédéric; Capella, Gabriel; Cavalleri, Gianpiero; Santen, Gijs W.E.; Ghani, Hamidah; Verdin, Hannah; Lochmüller, Hanns; Leavis, Helen; Zaganas, Ioannis; Cordts, Isabell; Maystadt, Isabelle; van Montfrans, Joris; Cossins, Judith; Desir, Julie; Gagneur, Julien; Boztug, Kaan; Dahan, Karin; Benson, Katherine; Schon, Katherine; Lohmann, Katja; Polavarapu, Kiran; Platzer, Konrad; Zguro, Kristina; Claeys, Kristl; Mathioudakis, Lambros; van der Veken, Lars; Masó, Laura Batlle; Valle, Laura; Krass, Leon; Huibers, Manon; De la Paz, Manuel Posada; Bourbouli, Mara; Abramowicz, Marc; Scala, Marcello; Ferilli, Marco; Savarese, Marco; Tartaglia, Marco; Deschauer, Marcus; Molnar, Maria Judit; Cilio, Maria-Roberta; Greally, Marie; Hoffer, Mariette J.V.; Spilioti, Martha; Pauly, Martje; O'Reghan, Mary; Haimel, Matthias; Karakaya, Mert; Iacomino, Michele; Drakos, Minas; Johari, Mridul; Allen, Nicholas; Schuermans, Nika; Delanty, Norman; Monestier, Olivier; Kiliçarslan, Özge Aksel; Scudieri, Paolo; Uva, Paolo; Striano, Pasquale; Chinnery, Patrick F.; May, Patrick; Balicza, Peter; Hackman, Peter; Thompson, Rachel; Jamra, Rami Abou; Herzog, Rebecca; Luknárová, Rebeka; Guerrini, Renzo; Horvath, Rita; Colobran, Roger; van Heurck, Roxane; Mary, Sandrine; Duerinckx, Sarah; Balestrini, Simona; Furini, Simone; Malaichamy, Sivasankar; Moortgat, Stéphanie; Byrne, Susan; Brohée, Sylvain; Ratnaike, Thiloka; Bartolomaeus, Tobias; Benoit, Valerie; Steinke-Lange, Verena; Yépez, Vicente A.; Sznajer, Yves; Di Feo, Maria Francesca ; Matalonga Borrel, Leslie ; Vissers, Lisenka ; de Voer, Richarda ; Lesca, Gaëtan ; Gayathri, Swethaa Natraj ; Cossee, Mireille ; Perrin, Aurelien ; Bonne, Gisele ; Verdonschot, Job A.J.
In Genetics in Medicine November 2025
Academic Journal
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; Abinun, Mario; Abrahamsen, Tore; Albert, Michael; Almalky, Mohamed; Altaf, Sadaf; Babayeva, Royala; Bakhtiar, Shahrzad; Baris, Safa; Baumann, Ulrich; Becker, Martina; Berger, Thomas; Biebl, Ariane; Bielack, Stefan; Biskup, Saskia; Bismarck, Philipp; Bode, Sebastian; Borchers, Regine; Boztug, Carl Friedrich; Brockmann, Knut; Bruwier, Annelyse; Buchholz, Bernd; Cant, Andrew; Castro, Carla N; Classen, Carl; 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; Fischer, Marco; Flaadt, Tim; Full, Hermann; Gambineri, Eleonora; Girschick, Hermann; Goldacker, Sigune; Grimbacher, Bodo; Groß, Miriam; Gruhn, Andrew J; Gungoren, Ezgi; Haberfellner, Florian; Hague, Rosie; Hauch, Holger; Hauck, Fabian; Heine, Sabine; Huisman, Elise; Jakovljevic, Gordana; James, Beki; Janda, Ales; Janda, Małgorzata; Jones, Neil; Kaiser-Labusch, Petra; Kentouche, Karim; Knight, Julian; Knirsch, Stephanie; Kontny, Udo; Körholz, Julia; Krenn, Ezgi Yalcin; Kuehnle, Ingrid; Kühne, Thomas; Lee-Dimroth, Jae-Yun; Lehmann, Hartwig; Leipold, Michael H.; Meinhardt, Andrea; Mönkemöller, Kirsten; Morbach, Henner; Mücke, Urs; Nathrath, Michaela; Naumann-Bartsch, Nora; Neth, Olaf; Niemeyer, Charlotte; Olbrich, Peter; Ostró, Róbert; Owens, Stephen; Pac, Malgorzata; Pachlopnik Schmid, Rita; Page, Markus G.; Pekrun, Arnulf; Prader, Seraina; Proietti, Michele; Rajacic, Nada; Rothoeft, Tobias; Ryan, Freimut H.; Salou, Sarah; Salzer, Elisabeth; Savic, Sinisa; Schilling, Antonio E.; Schmid, Jana; Schönberger, Stefan; Schuetz, Catharina; Schuez-Havupalo, Tore G.; Schulte, Björn; Schulz, Ansgar; Schuster, Volker; Seidel, Markus; Siepermann, Kathrin; Smisek, Petr; Soomann, Maarja; Stiefel, Martina; Storck, Simone; Strahm, Brigitte; Streiter, Elise J; Teltschik, Charlotte M.; Thalhammer, Julian; Tippelt, Stephan; Toskov, Vasil; Trück, Johannes; Vieth, Simon; Wegehaupt, Oliver; Wiesel, Thomas; Beier, Rita; Boztug, Kaan; Caballero-Oteyza, Andres; Gruhn, Bernd; Krenn, Thomas; Leipold, Alfred; Minkov, Milen; Pachlopnik Schmid, Jana; Page, Matthew J.T.; Ryan, Clodagh; Schilling, Freimut H.; Schuez-Havupalo, Linnea; Skomska-Pawliszak, Malgorzata; Streiter, Monika; Teltschik, Heiko-Manuel; von Bismarck, Philipp; Wittkowski, Helmut; Yalcin Gungoren, Ezgi
The Lancet Haematology. 11:e114-e126
Academic Journal
Golwala, Zainab M. ; Spiridou Goncalves, Helena ; Moirangthem, Ranjita Devi ; Evans, Grace ; Lizot, Sabrina ; de Koning, Coco ; Garrigue, Alexandrine ; Corredera, Marta Martin ; Ocampo-Godinez, Juan Moises ; Howley, Evey ; Kricke, Susanne ; Awuah, Arnold ; Obiri-Yeboa, Irene ; Rai, Rajeev ; Sebire, Neil ; Bernard, Fanette ; Bordon Cueto De Braem, Victoria ; Boztug, Kaan ; Cole, Theresa ; Gennery, Andrew R. ; Hackett, Scott ; Hambleton, Sophie ; Holm, Mette ; Kusters, Maaike A. ; Klocperk, Adam ; Marzollo, Antonio ; Marcus, Nufar ; Nademi, Zohreh ; Pachlopnik Schmid, Jana ; Pichler, Herbert ; Sellmer, Anna ; Soler-Palacin, Pere ; Soomann, Maarja ; Torpiano, Paul ; van Montfrans, Joris ; Nierkens, Stefan ; Adams, Stuart ; Buckland, Matthew ; Gilmour, Kimberly ; Worth, Austen ; Thrasher, Adrian J. ; Davies, E. Graham ; André, Isabelle ; Kreins, Alexandra Y.
In Clinical Immunology May 2025 274
Academic Journal
M. Cecilia Poli; Ivona Aksentijevich; Ahmed Aziz Bousfiha; Charlotte Cunningham-Rundles; Sophie Hambleton; Christoph Klein; Tomohiro Morio; Capucine Picard; Anne Puel; Nima Rezaei; Mikko R.J. Seppänen; Raz Somech; Helen C. Su; Kathleen E. Sullivan; Troy R. Torgerson; Isabelle Meyts; Stuart G. Tangye
Journal of Human Immunity, Vol 1, Iss 1 (2025)
Academic Journal
Ahmed Aziz Bousfiha; Leïla Jeddane; Abderrahmane Moundir; M. Cecilia Poli; Ivona Aksentijevich; Charlotte Cunningham-Rundles; Sophie Hambleton; Christoph Klein; Tomohiro Morio; Capucine Picard; Anne Puel; Nima Rezaei; Mikko R.J. Seppänen; Raz Somech; Helen C. Su; Kathleen E. Sullivan; Troy R. Torgerson; Stuart G. Tangye; Isabelle Meyts
Journal of Human Immunity, Vol 1, Iss 1 (2025)
Academic Journal
Block, Jana; Rashkova, Christina; Castanon, Irinka; Zoghi, Samaneh; Platon, Jessica; Ardy, Rico; Fujiwara, Mitsuhiro; Chaves, Beatriz; Schoppmeyer, Rouven; van der Made, Caspar; Jimenez Heredia, Raul; Harms, Frederike; Alavi, Samin; Alsina, Laia; Sanchez Moreno, Paula; Ávila Polo, Rainiero; Cabrera-Pérez, Rocío; Kostel Bal, Sevgi; Pfajfer, Laurene; Ransmayr, Bernhard; Mautner, Anna-Katharina; Kondo, Ryohei; Tinnacher, Anna; Caldera, Michael; Schuster, Michael; Domínguez Conde, Cecilia; Platzer, René; Salzer, Elisabeth; Boyer, Thomas; Brunner, Han; Nooitgedagt-Frons, Judith; Iglesias, Estíbaliz; Deyà-Martinez, Angela; Camacho-Lovillo, Marisol; Menche, Jörg; Bock, Christoph; Huppa, Johannes; Pickl, Winfried; Distel, Martin; Yoder, Jeffrey; Traver, David; Engelhardt, Karin; Linden, Tobias; Kager, Leo; Hannich, J. Thomas; Hoischen, Alexander; Hambleton, Sophie; Illsinger, Sabine; Da Costa, Lydie; Kutsche, Kerstin; Chavoshzadeh, Zahra; van Buul, Jaap; Antón, Jordi; Calzada-Hernández, Joan; Neth, Olaf; Viaud, Julien; Nishikimi, Akihiko; Dupré, Loïc; Boztug, Kaan
The New England Journal of Medicine, 389, 6, pp. 527-539
New England Journal of Medicine
New England Journal of Medicine
Academic Journal
Johansson Lennart; Laurie Steve; Spalding Dylan; Gibson Spencer; Ruvolo David; Thomas Coline; Piscia Davide; de Andrade Fernanda; Been Gerieke; Bijlsma Marieke; Brunner Han; Cimerman Sandi; Dizjikan Farid Yavari; Ellwanger Kornelia; Fernandez Marcos; Freeberg Mallory; van de Geijn Gert-Jan; Kanninga Roan; Maddi Vatsalya; Mehtarizadeh Mehdi; Neerincx Pieter; Ossowski Stephan; Rath Ana; Roelofs-Prins Dieuwke; Stok-Benjamins Marloes; van der Velde K Joeri; Veal Colin; van der Vries Gerben; Wadsley Marc; Warren Gregory; Zurek Birte; Keane Thomas; Graessner Holm; Beltran Serg; Swertz Morris A; Brookes Anthony; Riess Olaf; Haack Tobias; Demidov German; Sturm Marc; Schulze-Hentrich Julia M; Schüle Rebecca; Xu Jishu; Kessler Christoph; Kellner Melanie; Synofzik Matthis; Wilke Carlo; Traschütz Andreas; Schöls Ludger; Hengel Holger; Lerche Holger; Kegele Josua; Heutink Peter; Scheffer Hans; Hoogerbrugge Nicoline; Hoischen Alexander; 't Hoen Peter; Vissers Lisenka ELM; Gilissen Christian; Steyaert Wouter; Sablauskas Karolis; de Voer Richarda M; Kamsteeg Erik-Jan; van de Warrenburg Bart; van Os Nienke; te Paske Iris; Janssen Erik; de Boer Elke; Steehouwer Marloes; Yaldiz Burcu; Kleefstra Tjitske; Brookes Anthony J; Riaz Umar; Warren Greg; Shorter Thomas; Töpf Ana; Straub Volker; Bettolo Chiara Marini; Manera Jordi Diaz; Hambleton Sophie; Engelhardt Karin; Clayton-Smith Jill; Banka Siddharth; Alexander Elizabeth; Jackson Adam; Faivre Laurence; Thauvin Christel; Vitobello Antonio; Denommé-Pichon Anne-Sophie; Duffourd Yannis; Bruel Ange-Line; Peyron Christine; Pélissier Aurore; Beltran Sergi; Gut Ivo Glynne; Laurie Steven; Matalonga Leslie; Papakonstantinou Anastasios; Bullich Gemma; Corvo Alberto; Fernandez-Callejo Marcos; Hernández Carles; Picó Daniel; Paramonov Ida; Lochmüller Hanns; Gumus Gulcin; Bros-Facer Virginie; 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; Nelson Isabelle; Yaou Rabah Ben; Metay Corinne; Eymard Bruno; Cohen Enzo; Atalaia Antonio; Stojkovic Tanya; Macek Milan; Turnovec Marek; Thomasová Dana; Kremliková Radka Pourová; Franková Vera; Havlovicová Markéta; Lišková Petra; Doležalová Pavla; Parkinson Helen; Robinson Peter; Danis Daniel; Robert Glenn; Costa Alessia; Patch Christine; Hanna Mike; Houlden Henry; Reilly Mary; Vandrovcova Jana; Efthymiou Stephanie; Morsy Heba; 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; Morleo Manuela; Pinelli Michele; Varavallo Alessandra; Banfi Sandro; Torella Annalaura; 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; Garcia-Pelaez Jose; Barbosa-Matos Rita; José Celina São; Ferreira Marta; Gullo Irene; Fernandes Susana; Garrido Luzia; Ferreira Pedro; Carneiro Fátima; van der Velde Joeri K; Neerincx Pieter B; Abbott Kristin M; Frederikse Wilhemina S Kerstjens; Zonneveld-Huijssoon Eveline; van Gijn Marielle; Köhler Sebastian; Metcalfe Alison; Verloes Alain; Drunat Séverine; Heron Delphine; Mignot Cyril; Keren Boris; de Sainte Agathe Jean-Madeleine; Rooryck Caroline; Lacombe Didier; Trimouille Aurelien; De la Paz Manuel Posada; Sánchez Eva Bermejo; Martín Estrella López; Delgado Beatriz Martínez; de la Rosa F Javier Alonso García; Ciolfi Andrea; Dallapiccola Bruno; Pizzi Simone; Radio Francesca Clementina; Tartaglia Marco; Renieri Alessandra; Furini Simone; Fallerini Chiara; Benetti Elisa; Balicza Peter; Molnar Maria Judit; Maver Ales; Peterlin Borut; Münchau Alexander; Lohmann Katja; Herzog Rebecca; Pauly Martje; Macaya Alfons; Cazurro-Gutiérrez Ana; Pérez-Dueñas Belén; Munell Francina; Jarava Clara Franco; Masó Laura Batlle; Marcé-Grau Anna; Colobran Roger; Osorio Andrés Nascimento; de Benito Daniel Natera; Thompson Rachel; Polavarapu Kiran; Grimbacher Bodo; Beeson David; Cossins Judith; Hackman Peter; Johari Mridul; Savarese Marco; Udd Bjarne; Horvath Rita; Chinnery Patrick F; Ratnaike Thiloka; Gao Fei; Schon Katherine; Capella Gabriel; Valle Laura; Holinski-Feder Elke; Laner Andreas; Steinke-Lange Verena; Schröck Evelin; Rump Andreas; Başak Ayşe Nazlı; Hemelsoet Dimitri; Dermaut Bart; Schuermans Nika; Poppe Bruce; Verdin Hannah; Mei Davide; Vetro Annalisa; Balestrini Simona; Guerrini Renzo; Claeys Kristl; Santen; Gijs W E; Bijlsma; Emilia K; Hoffer; Mariette J V; Ruivenkamp; Claudia A L; Boztug Kaan; Haimel Matthias; Maystadt Isabelle; Cordts Isabell; Deschauer Marcus; Zaganas Ioannis; Kokosali Evgenia; Lambros Mathioudakis; Evangeliou Athanasios; Spilioti Martha; Kapaki Elisabeth; Bourbouli Mara; Striano Pasquale; Zara Federico; Riva Antonella; Iacomino Michele; Uva Paolo; Scala Marcello; Scudieri Paolo; Cilio Maria-Roberta; Carpancea Evelina; Depondt Chantal; Lederer Damien; Sznajer Yves; Duerinckx Sarah; Mary Sandrine; Depienne Christel; Roos Andreas; May Patrick
Gigascience
Gigascience, 13, pp. giae058
GigaScience
Solve-RD consortium, Johansson, L F, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C, Piscia, D, De Andrade, F, Been, G, Bijlsma, M, Brunner, H, Cimerman, S, Dizjikan, F Y, Ellwanger, K, Fernandez, M, Freeberg, M, Van De Geijn, G J, Kanninga, R, Maddi, V, Mehtarizadeh, M, Neerincx, P, Ossowski, S, Rath, A, Roelofs-Prins, D, Stok-Benjamins, M, Van Der Velde, K J, Veal, C, Van Der Vries, G, Wadsley, M, Warren, G, Zurek, B, Keane, T, Graessner, H, Beltran, S, Swertz, M A, Brookes, A J, Riess, O, Haack, T B, Demidov, G, Sturm, M, Clayton-Smith, J, Banka, S, Alexander, E, Jackson, A, Robinson, P, Costa, A, Metcalfe, A, Thompson, R, Gao, F & May, P 2024, 'An interconnected data infrastructure to support large-scale rare disease research', GigaScience, vol. 13, giae058. https://doi.org/10.1093/gigascience/giae058
Gigascience, 13, pp. giae058
GigaScience
Solve-RD consortium, Johansson, L F, Laurie, S, Spalding, D, Gibson, S, Ruvolo, D, Thomas, C, Piscia, D, De Andrade, F, Been, G, Bijlsma, M, Brunner, H, Cimerman, S, Dizjikan, F Y, Ellwanger, K, Fernandez, M, Freeberg, M, Van De Geijn, G J, Kanninga, R, Maddi, V, Mehtarizadeh, M, Neerincx, P, Ossowski, S, Rath, A, Roelofs-Prins, D, Stok-Benjamins, M, Van Der Velde, K J, Veal, C, Van Der Vries, G, Wadsley, M, Warren, G, Zurek, B, Keane, T, Graessner, H, Beltran, S, Swertz, M A, Brookes, A J, Riess, O, Haack, T B, Demidov, G, Sturm, M, Clayton-Smith, J, Banka, S, Alexander, E, Jackson, A, Robinson, P, Costa, A, Metcalfe, A, Thompson, R, Gao, F & May, P 2024, 'An interconnected data infrastructure to support large-scale rare disease research', GigaScience, vol. 13, giae058. https://doi.org/10.1093/gigascience/giae058
Academic Journal
Preece, Kahn; Kisaarslan, AYŞENUR; Ozcan, ALPER; Unal, EKREM; Quesada, Juan Francisco; Zhang, Yu; Zachova, Radana; Yilmaz, Ebru; Wright, Benjamin; Weiss, Mitchell J; Weinrich, Michael; Villa, Mariana; Vazquez-Gomez, Felisa; Urdinez, Luciano; Tsinti, Maria; Trojan, Timothy; Travis, Stephen; Thompson, Grace; Tanita, Kay; Suratannon, Narissara; Stergiou, Katerina; Sleasman, John; Slatter, Mary; Sinclair, Kyle; Sediva, Anna; Schwarz, Klaus; Schmidt, Reinhold Ernst; Schvetz, Oksana; Scheffler Mendoza, Selma C; Schauer, Uwe; Sawicki, Gregory; Sari, Sinan; Santarlas, Christopher; Sakovich, Inga; Sachs, Johnathan; Rohrlich, Pierre; Rodina, Yulia; Rieux-Laucat, Frederic; Richmond, Peter; Resin, Geraldine; Remiker, Allison; Rao, V Koneti; Randall, Katrina L; Ramakers, Jan; Quartier, Pierre; Polychronopoulou, Sophia; Picard, Capucine; Pegler, José Roberto; Pasquet, Marlene; Oleastro, Matias; Norlin, Anna-Carin; Nolan, David; Nelken, Brigitte; Nathalie, Aladjidi; Mukhina, Anna; Morgan, Noel G; Mombourquette, Joy; Miller, Holly; Meesilpavikai, Kornvalee; Mauracher, Andrea A; Marega, Lia Furlaneto; Malphettes, Marion; Marchal, Sarah; Manson, Ania; Maffucci, Patrick; Lorenz, Myriam Ricarda; Longhurst, Hilary; Lianou, Dimitra; Lesmana, Harry; Leroy, Sylvie; Kuzmenko, Natalia; Kotsonis, Kosmas; Klocperk, Adam; Kiykim, Ayca; Keogan, Mary; Kelaidi, Charikleia; Karamantziani, Theoni; Karakoc-Aydiner, Elif; Kanariou, Maria; Kakakukcu, Musa; Jones, Neil; Jolly, Kent W; Jolles, Stephen; Ikeda, Marc D; Huppert, Laura; Hannibal, Mark; Fischer, Alain; Fabre, Alexandre; Esty, Brittany; Eken, Ahmet; Ebbo, Mikael; Dujovny, Tal; Dominguez-Pinilla, Nerea; Danielian, Silvia; Dalm, Virgil Ash; Dalgic, Buket; Crickx, Etienne; Cox, Fionnuala; Conlon, Niall; Cokugras, Haluk; Chellapandian, Deepak; Chatila, Talal A; Charbonnier, Louis-Marie; Celmeli, Fatih; Castelle, Martin; Caldirola, Maria Soledad; Bunin, Nancy J; Broderick, Lori; Biebl, Ariane; Bezrodnik, Liliana; Belko, John; Baumann, Ulrich; Barlogis, Vincent; Aygunes, Utku; Aydemir, Sezin; Atschekzei, Faranaz; Atkinson, T Prescott; Allende, Luis M; Aleshkevich, Svetlana; Forbes Satter, Lisa R; Milner, Joshua D; Cooper, Megan A; Tangye, Stuart G; Ehl, Stephan; Sogkas, Georgios; Torgerson, Troy R; Seppänen, Mikko R J; Worth, Austen; Walkovich, Kelly; Warnatz, Klaus; Velasco, Helena; Szabolcs, Paul; Suegeorgz, Daniel; Suan, Daniel; Skevofilax, Effie; Sinclair, Jan; Seroogy, Christine; Schejter, Yael; Russell, Mark A; Lugo Reyes, Saúl Oswaldo; Pozos, Tamara; Patel, Niraj C; Palma, Alejandro; Olbrich, Peter; Neth, Olaf; Martelius, Timi; Levin, Carina; Lawrence, Monica G; Kumar, Ashish; Kainulainen, Leena; Guerreiro, Anthony L; Gonzalez-Granado, Luis Ignacio; Hoffman, Hal M; Heiskanen-Kosma, Tarja; Heiskanen, Kaarina; Hämäläinen, Sari; Haapaniemi, Emma; Grunebaum, Eyal; Grimbacher, Bodo; Gottrand, Frédéric; Marques, José Gonçalo; Gennery, Andrew R; Gauthier, Amelie; Gallo, Silvanna; Fulcher, David A; Fischer, Ute; Desai, Mukesh M; Cook, Matthew C; Cole, Theresa; Christiansen, Mette; Chandrakasan, Shanmuganathan; Chan, Alice Y; Bundy, Vanessa; Brothers, Shannon; Briggs, Tracy A; Chang Berger, Amy; Bartnikas, Lisa M; Baris, Safa; Bahna, Sami; Su, Helen; Rees, Matthew; Průhová, Štěpánka; Schmid, Jana Pachlopnik; O'Sullivan, Michael; Dos Santos Vilela, Maria Marluce; Jesudas, Rohith; Mousallem, Talal; Bohnsack, John; Rose, Melissa; Prince, Benjamin T; Deane, Sean G; Romberg, Neil; Allenspach, Eric; Sullivan, Kathleen E; Heimall, Jennifer; Giovannini-Chami, Lisa; Gambineri, Eleonora; Flanagan, Sarah E; Bauer, Cindy S; Scherbina, Anna; Ozen, Ahmet; Thatayatikom, Akaluck; Morio, Tomohiro; Kostyuchenko, Larysa; Klemann, Christian; Hague, Rosie; Chua, Ignatius; Taskinen, Mervi; Sharapova, Svetlana O; Dutmer, Cullen M; Cunningham-Rundles, Charlotte; Van Hagen, Martin; Leahy, Timothy Ronan; Hambleton, Sophie; Hadjadj, Jérôme; Neven, Bénédicte; Rensing-Ehl, Anne; Heeg, Maximilian; Silva-Carmona, Manuel; Vargas-Hernandez, Alexander; Carisey, Alexandre; Smith, Madison R; Mhaskar, Rahul; Santarlas, Valentine G J; Vogel, Tiphanie P; Leiding, Jennifer W
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
STAT3 GOF Working Group members & et al. 2023, 'Monogenic early-onset lymphoproliferation and autoimmunity : Natural history of STAT3 gain-of-function syndrome', The Journal of allergy and clinical immunology, vol. 151, no. 4, pp. 1081-1095. https://doi.org/10.1016/j.jaci.2022.09.002
Journal of Allergy and Clinical Immunology, vol 151, iss 4
STAT3 GOF Working Group members 2023, 'Monogenic early-onset lymphoproliferation and autoimmunity : Natural history of STAT3 gain-of-function syndrome', Journal of Allergy and Clinical Immunology, vol. 151, no. 4, pp. 1081-1095. https://doi.org/10.1016/j.jaci.2022.09.002
Consejería de Sanidad de la Comunidad de Madrid
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
STAT3 GOF Working Group members & et al. 2023, 'Monogenic early-onset lymphoproliferation and autoimmunity : Natural history of STAT3 gain-of-function syndrome', The Journal of allergy and clinical immunology, vol. 151, no. 4, pp. 1081-1095. https://doi.org/10.1016/j.jaci.2022.09.002
Journal of Allergy and Clinical Immunology, vol 151, iss 4
STAT3 GOF Working Group members 2023, 'Monogenic early-onset lymphoproliferation and autoimmunity : Natural history of STAT3 gain-of-function syndrome', Journal of Allergy and Clinical Immunology, vol. 151, no. 4, pp. 1081-1095. https://doi.org/10.1016/j.jaci.2022.09.002
Academic Journal
Gothe, Florian ; Stremenova Spegarova, Jarmila ; Hatton, Catherine F. ; Griffin, Helen ; Sargent, Thomas ; Cowley, Sally A. ; James, William ; Roppelt, Anna ; Shcherbina, Anna ; Hauck, Fabian ; Reyburn, Hugh T. ; Duncan, Christopher J.A. ; Hambleton, Sophie
In The Journal of Allergy and Clinical Immunology October 2022 150(4):955-964
Academic Journal
Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; null, null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 't Hoen, Peter A. C.; Steyaert, Wouter; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Neveling, Kornelia; van der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; 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; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; de Jonghe, Peter; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García de la Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia de Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De la Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; van der Veken, Lars; van Heurck, Roxane; van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven
NPJ Genom Med
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
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
Tsilifis, Christo; Spegarova, Jarmila Stremenova; Good, Ross; Griffin, Helen; Engelhardt, Karin R.; Graham, Sophie; Hughes, Stephen; Arkwright, Peter D.; Hambleton, Sophie; Gennery, Andrew R.
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 44(4)
Academic Journal
Uhlig, Holm H.; Booth, Claire; Cho, Judy; Dubinsky, Marla; Griffiths, Anne M.; Grimbacher, Bodo; Hambleton, Sophie; Huang, Ying; Jones, Kelsey; Kammermeier, Jochen; Kanegane, Hirokazu; Koletzko, Sibylle; Kotlarz, Daniel; Klein, Christoph; Lenardo, Michael J.; Lo, Bernice; McGovern, Dermot P. B.; Özen, Ahmet; de Ridder, Lissy; Ruemmele, Frank; Shouval, Dror S.; Snapper, Scott B.; Travis, Simon P.; Turner, Dan; Wilson, David C.; Muise, Aleixo M.
Nature Reviews Gastroenterology & Hepatology. 20(12):810-828
Academic Journal
Mehta, Priti; Tsilifis, Christo; Lum, Su Han; Slatter, Mary A.; Hambleton, Sophie; Owens, Stephen; Williams, Eleri; Flood, Terry; Gennery, Andrew R.; Nademi, Zohreh
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 43(8):1812-1826
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
검색 결과 제한하기
제한된 항목
[검색어] Hambleton, Sophie
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어