학술논문
'학술논문'
에서 검색결과 107건 | 목록
10~20
Academic Journal
Yaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Corominas Galbany, Jordi; Rinne, Tuula; Yntema, Helger G.; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; Riess, Olaf; Haack, Tobias B.; 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; Hoen, Peter A. C.'t; Vissers, Lisenka E. L. M.; 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; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; 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; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; 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; 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; LiÅ¡ková, Petra; Dolezalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; 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; 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 Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Abbott, Kristin M.; Frederikse, Wilhemina SKerstjens; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; 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-Dueéas, 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; BaÅak, AyÅe Nazli; 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, Isabelle; 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
Human Genomics. May 3, 2023, Vol. 17 Issue 1
Academic Journal
Machado, Rajiv D.; Welch, Carrie L.; Haimel, Matthias; Bleda, Marta; Colglazier, Elizabeth; Coulson, John D.; Debeljak, Marusa; Ekstein, Josef; Fineman, Jeffrey R.; Golden, William Christopher; Griffin, Emily L.; Hadinnapola, Charaka; Harris, Michael A.; Hirsch, Yoel; Hoover-Fong, Julie Elizabeth; Nogee, Lawrence; Romer, Lewis H; Vesel, Samo; Gräf, Stefan; Morrell, Nicholas W.
Journal of Medical Genetics; Sep2022, Vol. 59 Issue 9, p906-911, 6p
Academic Journal
Gräf, Stefan; Haimel, Matthias; Bleda, Marta; Hadinnapola, Charaka; Southgate, Laura; Li, Wei; Hodgson, Joshua; Liu, Bin; Salmon, Richard M; Southwood, Mark; Machado, Rajiv D; Martin, Jennifer M; Treacy, Carmen M; Yates, Katherine; Daugherty, Louise C; Shamardina, Olga; Whitehorn, Deborah; Holden, Simon; Aldred, Micheala; Bogaard, Harm J; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul A; Danesino, Cesare; Eyries, Mélanie; Gall, Henning; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, J Simon R; Girerd, Barbara; Houweling, Arjan C; Howard, Luke; Humbert, Marc; Kiely, David G; Kovacs, Gabor; MacKenzie Ross, Robert V; Moledina, Shahin; Montani, David; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Peacock, Andrew J; Pepke-Zaba, Joanna; Prokopenko, Inga; Rhodes, Christopher J; Scelsi, Laura; Seeger, Werner; Soubrier, Florent; Stein, Dan F; Suntharalingam, Jay; Swietlik, Emilia M; Toshner, Mark R; van Heel, David A; Vonk Noordegraaf, Anton; Waisfisz, Quinten; Wharton, John; Wort, Stephen J; Ouwehand, Willem H; Soranzo, Nicole; Lawrie, Allan; Upton, Paul D; Wilkins, Martin R; Trembath, Richard C; Morrell, Nicholas W
Nature communications. 9(1)
Academic Journal
Haimel, Matthias; Pazmandi, Julia; Heredia, Raúl Jiménez; Dmytrus, Jasmin; Bal, Sevgi Köstel; Zoghi, Samaneh; van Daele, Paul; Briggs, Tracy A.; Wouters, Carine; Bader-Meunier, Brigitte; Aeschlimann, Florence A.; Caorsi, Roberta; Eleftheriou, Despina; Hoppenreijs, Esther; Salzer, Elisabeth; Bakhtiar, Shahrzad; Derfalvi, Beata; Saettini, Francesco; Kusters, Maaike A.A.; Elfeky, Reem
Journal of Allergy & Clinical Immunology; Jan2022, Vol. 149 Issue 1, p369-378, 10p
Periodical
Machado, Rajiv D; Welch, Carrie L; Haimel, Matthias; Bleda, Marta; Colglazier, Elizabeth; Coulson, John D; Debeljak, Marusa; Ekstein, Josef; Fineman, Jeffrey R; Golden, William Christopher; Griffin, Emily L; Hadinnapola, Charaka; Harris, Michael A; Hirsch, Yoel; Hoover-Fong, Julie Elizabeth; Nogee, Lawrence; Romer, Lewis H; Vesel, Samo; Gra¨f, Stefan; Morrell, Nicholas W; Southgate, Laura; Chung, Wendy K
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 9 p906-911, 6p
Academic Journal
Bradnam, Keith R; Fass, Joseph N; Alexandrov, Anton; Baranay, Paul; Bechner, Michael; Birol, Inanç; Boisvert, Sébastien; Chapman, Jarrod A; Chapuis, Guillaume; Chikhi, Rayan; Chitsaz, Hamidreza; Chou, Wen-Chi; Corbeil, Jacques; Del Fabbro, Cristian; Docking, T; Durbin, Richard; Earl, Dent; Emrich, Scott; Fedotov, Pavel; Fonseca, Nuno A; Ganapathy, Ganeshkumar; Gibbs, Richard A; Gnerre, Sante; Godzaridis, Élénie; Goldstein, Steve; Haimel, Matthias; Hall, Giles; Haussler, David; Hiatt, Joseph B; Ho, Isaac Y; Howard, Jason; Hunt, Martin; Jackman, Shaun D; Jaffe, David B; Jarvis, Erich D; Jiang, Huaiyang; Kazakov, Sergey; Kersey, Paul J; Kitzman, Jacob O; Knight, James R; Koren, Sergey; Lam, Tak-Wah; Lavenier, Dominique; Laviolette, François; Li, Yingrui; Li, Zhenyu; Liu, Binghang; Liu, Yue; Luo, Ruibang; MacCallum, Iain; MacManes, Matthew D; Maillet, Nicolas; Melnikov, Sergey; Naquin, Delphine; Ning, Zemin; Otto, Thomas D; Paten, Benedict; Paulo, Octávio S; Phillippy, Adam M; Pina-Martins, Francisco; Place, Michael; Przybylski, Dariusz; Qin, Xiang; Qu, Carson; Ribeiro, Filipe J; Richards, Stephen; Rokhsar, Daniel S; Ruby, J; Scalabrin, Simone; Schatz, Michael C; Schwartz, David C; Sergushichev, Alexey; Sharpe, Ted; Shaw, Timothy I; Shendure, Jay; Shi, Yujian; Simpson, Jared T; Song, Henry; Tsarev, Fedor; Vezzi, Francesco; Vicedomini, Riccardo; Vieira, Bruno M; Wang, Jun; Worley, Kim C; Yin, Shuangye; Yiu, Siu-Ming; Yuan, Jianying; Zhang, Guojie; Zhang, Hao; Zhou, Shiguo; Korf, Ian F
GigaScience. 2(1)
Report
Bradnam, Keith R.; Fass, Joseph N.; Alexandrov, Anton; Baranay, Paul; Bechner, Michael; Birol, İnanç; Boisvert, Sébastien; Chapman, Jarrod A.; Chapuis, Guillaume; Chikhi, Rayan; Chitsaz, Hamidreza; Chou, Wen-Chi; Corbeil, Jacques; Del Fabbro, Cristian; Docking, T. Roderick; Durbin, Richard; Earl, Dent; Emrich, Scott; Fedotov, Pavel; Fonseca, Nuno A.; Ganapathy, Ganeshkumar; Gibbs, Richard A.; Gnerre, Sante; Godzaridis, Élénie; Goldstein, Steve; Haimel, Matthias; Hall, Giles; Haussler, David; Hiatt, Joseph B.; Ho, Isaac Y.; Howard, Jason; Hunt, Martin; Jackman, Shaun D.; Jaffe, David B; Jarvis, Erich; Jiang, Huaiyang; Kazakov, Sergey; Kersey, Paul J.; Kitzman, Jacob O.; Knight, James R.; Koren, Sergey; Lam, Tak-Wah; Lavenier, Dominique; Laviolette, François; Li, Yingrui; Li, Zhenyu; Liu, Binghang; Liu, Yue; Luo, Ruibang; MacCallum, Iain; MacManes, Matthew D; Maillet, Nicolas; Melnikov, Sergey; Vieira, Bruno Miguel; Naquin, Delphine; Ning, Zemin; Otto, Thomas D.; Paten, Benedict; Paulo, Octávio S.; Phillippy, Adam M.; Pina-Martins, Francisco; Place, Michael; Przybylski, Dariusz; Qin, Xiang; Qu, Carson; Ribeiro, Filipe J; Richards, Stephen; Rokhsar, Daniel S.; Ruby, J. Graham; Scalabrin, Simone; Schatz, Michael C.; Schwartz, David C.; Sergushichev, Alexey; Sharpe, Ted; Shaw, Timothy I.; Shendure, Jay; Shi, Yujian; Simpson, Jared T.; Song, Henry; Tsarev, Fedor; Vezzi, Francesco; Vicedomini, Riccardo; Wang, Jun; Worley, Kim C.; Yin, Shuangye; Yiu, Siu-Ming; Yuan, Jianying; Zhang, Guojie; Zhang, Hao; Zhou, Shiguo; Korf, Ian F.
GigaScience 2:10 (2013)
Academic Journal
Surucu Yilmaz, Naz; Bilgic Eltan, Sevgi; Kayaoglu, Basak; Geckin, Busranur; Heredia, Raul Jimenez; Sefer, Asena Pinar; Kiykim, Ayca; Nain, Ercan; Kasap, Nurhan; Dogru, Omer; Yucelten, Ayse Deniz; Cinel, Leyla; Karasu, Gulsun; Yesilipek, Akif; Sozeri, Betul; Kaya, Goksu Gokberk; Yilmaz, Ismail Cem; Baydemir, Ilayda; Aydin, Yagmur; Cansen Kahraman, Deniz; Haimel, Matthias; Boztug, Kaan; Karakoc-Aydiner, Elif; Gursel, Ihsan; Ozen, Ahmet; Baris, Safa; Gursel, Mayda
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 42(3):582-596
Academic Journal
Maassen, Kars; Legger, Elizabeth; 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; Eleftheriou, Despina; Caorsi, Roberta; Aeschlimann, Florence; van Nieuwenhove, Erika; Boursier, Guilaine; Brogan, Paul; Haimel, Matthias; van Gijn, Marielle E.
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