학술논문
'학술논문'
에서 검색결과 289건 | 목록
20~30
Academic Journal
Lagorce, David; Lebreton, Emeline; Matalonga, Leslie; Hongnat, Oscar; Chahdil, Maroua; Piscia, Davide; Paramonov, Ida; Ellwanger, Kornelia; Koehler, Sebastian; Robinson, Peter; Graessner, Holm; Beltran, Sergi; Lucano, Caterina; Hanauer, Marc; Rath, Ana
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
Schlüter, Agatha; Vélez-Santamaría, Valentina; Verdura, Edgard; Rodríguez-Palmero, Agustí; Ruiz, Montserrat; Fourcade, Stéphane; Planas-Serra, Laura; Launay, Nathalie; Guilera, Cristina; Martínez, Juan José; Homedes-Pedret, Christian; Albertí-Aguiló, M. Antonia; Zulaika, Miren; Martí, Itxaso; Troncoso, Mónica; Tomás-Vila, Miguel; Bullich, Gemma; García-Pérez, M. Asunción; Sobrido-Gómez, María-Jesús; López-Laso, Eduardo; Fons, Carme; Del Toro, Mireia; Macaya, Alfons; Beltran, Sergi; Gutiérrez-Solana, Luis G.; Pérez-Jurado, Luis A.; Aguilera-Albesa, Sergio; de Munain, Adolfo López; Casasnovas, Carlos; Pujol, Aurora
Genome Medicine. 15(1)
Academic Journal
Curiel-Olmo, Soraya; Mondéjar, Rufino; Almaraz, Carmen; Mollejo, Manuela; Cereceda, Laura; Marès, Roso; Derdak, Sophia; Campos-Martín, Yolanda; Batlle, Ana; González de Villambrosía, Sonia; Gut, Marta; Blanc, Julie; Traverse-Glehen, Alexandra; Verney, Aurelie; Baseggio, Lucile; Camacho, Francisca I.; Wotherspoon, Andrew; Stamatopoulos, Kostas; Xochelli, Aliki; Papadaki, Theodora; Kanellis, George; Ponzoni, Maurilio; García-Cosío, Monica; Vaqué, Jose P.; Beltrán, Sergi; Gut, Ivo; Piris, Miguel Angel ; Martínez, Nerea
In Blood 23 February 2017 129(8):1042-1045
Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvo, Alberto; Fernandez-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martinez, Ines; Papakonstantinou, Anastasios; Pico-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayes, Monica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Alonso, Angel; Attimonelli, Marcella; Beroud, Christophe; Bros-Facer, Virginie; Buske, Orion J.; Canada-Pallares, Andres; Fernandez, Jose M.; Hansson, Mats G., 1952; Horvath, Rita; Jacobsen, Julius O. B.; Kaliyaperumal, Rajaram; Lair-Preterre, Severine; Licata, Luana; Lopes, Pedro; Lopez-Martin, Estrella; Mascalzoni, Deborah, 1973; Monaco, Lucia; Perez-Jurado, Luis A.; Posada de la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N.; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter A. C.; Topf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G.; Lochmuller, Hanns; Beltran, Sergi
Human Mutation. 43(6):717-733
Academic Journal
Castro-Sánchez, Sheila; Álvarez-Satta, María; Tohamy, Mohamed A.; Beltran, Sergi; Derdak, Sophia; Valverde, Diana
Academic Journal
Alioto, Tyler S; Buchhalter, Ivo; Derdak, Sophia; Hutter, Barbara; Eldridge, Matthew D; Hovig, Eivind; Heisler, Lawrence E; Beck, Timothy A; Simpson, Jared T; Tonon, Laurie; Sertier, Anne-Sophie; Patch, Ann-Marie; Jäger, Natalie; Ginsbach, Philip; Drews, Ruben; Paramasivam, Nagarajan; Kabbe, Rolf; Chotewutmontri, Sasithorn; Diessl, Nicolle; Previti, Christopher; Schmidt, Sabine; Brors, Benedikt; Feuerbach, Lars; Heinold, Michael; Gröbner, Susanne; Korshunov, Andrey; Tarpey, Patrick S; Butler, Adam P; Hinton, Jonathan; Jones, David; Menzies, Andrew; Raine, Keiran; Shepherd, Rebecca; Stebbings, Lucy; Teague, Jon W; Ribeca, Paolo; Giner, Francesc Castro; Beltran, Sergi; Raineri, Emanuele; Dabad, Marc; Heath, Simon C; Gut, Marta; Denroche, Robert E; Harding, Nicholas J; Yamaguchi, Takafumi N; Fujimoto, Akihiro; Nakagawa, Hidewaki; Quesada, Víctor; Valdés-Mas, Rafael; Nakken, Sigve; Vodák, Daniel; Bower, Lawrence; Lynch, Andrew G; Anderson, Charlotte L; Waddell, Nicola; Pearson, John V; Grimmond, Sean M; Peto, Myron; Spellman, Paul; He, Minghui; Kandoth, Cyriac; Lee, Semin; Zhang, John; Létourneau, Louis; Ma, Singer; Seth, Sahil; Torrents, David; Xi, Liu; Wheeler, David A; López-Otín, Carlos; Campo, Elías; Campbell, Peter J; Boutros, Paul C; Puente, Xose S; Gerhard, Daniela S; Pfister, Stefan M; McPherson, John D; Hudson, Thomas J; Schlesner, Matthias; Lichter, Peter; Eils, Roland; Jones, David TW; Gut, Ivo G
Nature communications. 6(1)
Academic Journal
Philippakis, Anthony A; Azzariti, Danielle R; Beltran, Sergi; Brookes, Anthony J; Brownstein, Catherine A; Brudno, Michael; Brunner, Han G; Buske, Orion J; Carey, Knox; Doll, Cassie; Dumitriu, Sergiu; Dyke, Stephanie OM; den Dunnen, Johan T; Firth, Helen V; Gibbs, Richard A; Girdea, Marta; Gonzalez, Michael; Haendel, Melissa A; Hamosh, Ada; Holm, Ingrid A; Huang, Lijia; Hurles, Matthew E; Hutton, Ben; Krier, Joel B; Misyura, Andriy; Mungall, Christopher J; Paschall, Justin; Paten, Benedict; Robinson, Peter N; Schiettecatte, François; Sobreira, Nara L; Swaminathan, Ganesh J; Taschner, Peter E; Terry, Sharon F; Washington, Nicole L; Züchner, Stephan; Boycott, Kym M; Rehm, Heidi L
Human Mutation. 36(10)
Periodical
Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Tonda, Raúl; Artuch, Rafael; Gallano, Pia; Garrabou, Glòria; González, Juan R.; Grinberg, Daniel; Guitart, Míriam; Laurie, Steven; Lázaro, Conxi; Luengo, Cristina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfons; Palau, Francesc; Ribes, Antònia; Pérez-Jurado, Luis A.; Beltran, Sergi; Schlüter, Agatha; Rodriguez-Palmero, Agustí; Cáceres, Alejandro; Nascimento, Andrés; García-Cazorla, Àngels; Cueto-González, Anna; Marcé-Grau, Anna; Nel.lo, Anna Ruiz; Martínez-Monseny, Antonio; Sànchez, Aurora; García, Belén; Pérez-Dueñas, Belén; Gel, Bernat; Fusté, Berta; Hernández-Ferrer, Carles; Casasnovas, Carlos; Ortez, Carlos; Arjona, César; Hernando-Davalillo, Cristina; de Benito, Daniel Natera; Amador, Daniel Picó; Gómez-Andrés, David; Yubero, Dèlia; Pelegrí-Sisó, Dolors; Verdura, Edgard; García-Arumí, Elena; Castellanos, Elisabeth; Gabau, Elisabeth; Tobías, Ester; López-Grondona, Fermina; Cardellach, Francesc; Garcia-Garcia, Francesc Josep; Munell, Francina; Tort, Frederic; Aznar, Gemma; Olivé-Cirera, Gemma; Tell, Gemma; Muñoz-Pujol, Gerard; Paramonov, Ida; Blanco, Ignacio; Madrigal, Irene; Valenzuela, Irene; Gut, Ivo; Cusco, Ivon; Trotta, Jean-Rémi; Cruz, Jordi; Díaz-Manera, Jordi; Milisenda, José César; MaGrau, Josep; Garcia-Villoria, Judit; Armstrong, Judith; Cantó, Judith; Sala-Coromina, Júlia; Rodríguez-Revenga, Laia; Alias, Laura; Gort, Laura; González-Quereda, Lídia; Costa, Mar; Fernández-Callejo, Marcos; López-Sánchez, Marcos; Álvarez-Mora, Maria Isabel; Gut, Marta; Serrano, Mercedes; Raspall-Chaure, Miquel; Toro, Mireia del; Bayés, Mònica; Díez, Neus Baena; Spataro, Nino; Capdevila, Núria; Ugarteburu, Olatz; Muñoz-Cabello, Patricia; Duque, Penélope Romero; Rabionet, Raquel; Rojas-García, Ricard; Calvo, Rosa; Urreizti, Roser; Bernal, Sara; Boronat, Susana; Balcells, Susanna; Vendrell, Teresa
The Journal of Molecular Diagnostics; May 2022, Vol. 24 Issue: 5 p529-542, 14p
Academic Journal
Clop, Alex; Sharaf, Abdoallah; Castelló, Anna; Ramos-Onsins, Sebastián; Cirera, Susanna; Mercadé, Anna; Derdak, Sophia; Beltran, Sergi; Huisman, Abe; Fredholm, Merete; van As, Pieter; Sánchez, Armand
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