학술논문
'학술논문'
에서 검색결과 289건 | 목록
10~20
Academic Journal
Quintana, Isabel; Terradas, Mariona; Mur, Pilar; te Paske, Iris B.A.W.; Peters, Sophia; Spier, Isabel; Steinke-Lange, Verena; Maestro, Claudia; Torrents, David; Puiggròs, Montserrat; Royo, Romina; Tonda, Raul; Parra, Genís; Piscia, Davide; Beltrán, Sergi; Navarro, Matilde; Piñol, Virginia; Brunet, Joan; Gonzalez-Abuin, Noemi; Aiza, Gemma; Sommer, Anna; van Herwaarden, Yasmijn; Astuti, Galuh; Holinski-Feder, Elke; Hoogerbrugge, Nicoline; de Voer, Richarda M.; Aretz, Stefan; Capellá, Gabriel; Valle, Laura
In Genes & Diseases May 2023 10(3):753-757
Academic Journal
Núñez-Carpintero, Iker; Rigau, Maria; Bosio, Mattia; O’Connor, Emily; Spendiff, Sally; Azuma, Yoshiteru; Topf, Ana; Thompson, Rachel; ’t Hoen, Peter A. C.; Chamova, Teodora; Tournev, Ivailo; Guergueltcheva, Velina; Laurie, Steven; Beltran, Sergi; Capella-Gutiérrez, Salvador; Cirillo, Davide; Lochmüller, Hanns; Valencia, Alfonso
Nature Communications; 1/2/2024, Vol. 15 Issue 1, p1-15, 15p
Academic Journal
Jacobsen, Julius OB; Baudis, Michael; Baynam, Gareth S; Beckmann, Jacques S; Beltran, Sergi; Buske, Orion J; Callahan, Tiffany J; Chute, Christopher G; Courtot, Mélanie; Danis, Daniel; Elemento, Olivier; Essenwanger, Andrea; Freimuth, Robert R; Gargano, Michael A; Groza, Tudor; Hamosh, Ada; Harris, Nomi L; Kaliyaperumal, Rajaram; Lloyd, Kevin C Kent; Khalifa, Aly; Krawitz, Peter M; Köhler, Sebastian; Laraway, Brian J; Lehväslaiho, Heikki; Matalonga, Leslie; McMurry, Julie A; Metke-Jimenez, Alejandro; Mungall, Christopher J; Munoz-Torres, Monica C; Ogishima, Soichi; Papakonstantinou, Anastasios; Piscia, Davide; Pontikos, Nikolas; Queralt-Rosinach, Núria; Roos, Marco; Sass, Julian; Schofield, Paul N; Seelow, Dominik; Siapos, Anastasios; Smedley, Damian; Smith, Lindsay D; Steinhaus, Robin; Sundaramurthi, Jagadish Chandrabose; Swietlik, Emilia M; Thun, Sylvia; Vasilevsky, Nicole A; Wagner, Alex H; Warner, Jeremy L; Weiland, Claus; Haendel, Melissa A; Robinson, Peter N
Nature Biotechnology. 40(6)
Periodical
Lagorce, David; Lebreton, Emeline; Matalonga, Leslie; Hongnat, Oscar; Chahdil, Maroua; Piscia, Davide; Paramonov, Ida; Ellwanger, Kornelia; Köhler, Sebastian; Robinson, Peter; Graessner, Holm; Beltran, Sergi; Lucano, Caterina; Hanauer, Marc; Rath, Ana
European Journal of Human Genetics: EJHG; February 2024, Vol. 32 Issue: 2 p182-189, 8p
Academic Journal
Garnier, Nicolas; Berghout, Joanne; Zygmunt, Aldona; Singh, Deependra; Huang, Kui A.; Kantz, Waltraud; Blankart, Carl Rudolf; Gillner, Sandra; Zhao, Jiawei; Roettger, Richard; Saier, Christina; Kirschner, Jan; Schenk, Joern; Atkins, Leon; Ryan, Nuala; Zarakowska, Kaja; Zschüntzsch, Jana; Zuccolo, Michela; Müllenborn, Matthias; Man, Yuen-Sum; Goodman, Liz; Trad, Marie; Chalandon, Anne Sophie; Sansen, Stefaan; Martinez-Fresno, Maria; Badger, Shirlene; Walther van Olden, Rudolf; Rothmann, Robert; Lehner, Patrick; Tschohl, Christof; Baillon, Ludovic; Gumus, Gulcin; Gross, Edith; Stefanov, Rumen; Iskrov, Georgi; Raycheva, Ralitsa; Kostadinov, Kostadin; Mitova, Elena; Einhorn, Moshe; Einhorn, Yaron; Schepers, Josef; Hübner, Miriam; Alves, Frauke; Iskandar, Rowan; Mayer, Rudolf; Renieri, Alessandra; Piperkova, Aneta; Gut, Ivo; Beltran, Sergi; Matthiesen, Mads Emil; Poetz, Marion; Hansson, Mats; Trollmann, Regina; Agolini, Emanuele; Ottombrino, Silvia; Novelli, Antonio; Bertini, Enrico; Selvatici, Rita; Farnè, Marianna; Fortunato, Fernanda; Ferlini, Alessandra
PLoS ONE. November 22, 2023, Vol. 18 Issue 11, e0293503
Academic Journal
Ferlini, Alessandra; Gross, Edith Sky; Garnier, Nicolas; Berghout, Joanne; Zygmunt, Aldona; Singh, Deependra; Huang, Kui A.; Kantz, Waltraud; Blankart, Carl Rudolf; Gillner, Sandra; Zhao, Jiawei; Roettger, Richard; Saier, Christina; Kirschner, Jan; Schenk, Joern; Atkins, Leon; Ryan, Nuala; Zarakowska, Kaja; Zschüntzsch, Jana; Zuccolo, Michela; Müllenborn, Matthias; Man, Yuen-Sum; Goodman, Liz; Lysogene, Marie Trad; Chalandon, Anne Sophie; Sansen, Stefaan; Martinez-Fresno, Maria; Badger, Shirlene; van Olden, Rudolf Walther; Rothmann, Robert; Lehner, Patrick; Tschohl, Christof; Baillon, Ludovic; Gumus, Gulcin; Stefanov, Rumen; Iskrov, Georgi; Raycheva, Ralitsa; Kostadinov, Kostadin; Stefanov, Georgi; Mitova, Elena; Einhorn, Moshe; Einhorn, Yaron; Schepers, Josef; Hübner, Miriam; Alves, Frauke; Iskandar, Rowan; Mayer, Rudolf; Renieri, Alessandra; Piperkova, Aneta; Gut, Ivo; Beltran, Sergi; Matthiesen, Mads Emil; Poetz, Marion; Hansson, Mats; Trollmann, Regina; Agolini, Emanuele; Ottombrino, Silvia; Novelli, Antonio; Bertini, Enrico; Selvatici, Rita; Farnè, Marianna; Fortunato, Fernanda
Orphanet Journal of Rare Diseases. October 4, 2023, Vol. 18 Issue 1
Academic Journal
Whalley, Justin; Buchhalter, Ivo; Rheinbay, Esther; Raine, Keiran; Stobbe, Miranda; Kleinheinz, Kortine; Werner, Johannes; Beltran, Sergi; Gut, Marta; Hübschmann, Daniel; Hutter, Barbara; Livitz, Dimitri; Perry, Marc; Rosenberg, Mara; Saksena, Gordon; Trotta, Jean-Rémi; Eils, Roland; Gerhard, Daniela; Campbell, Peter; Schlesner, Matthias; Gut, Ivo
Nature Communications. 11(1)
Academic Journal
Estevez-Arias, Berta; Matalonga, Leslie; Martorell, Loreto; Codina, Anna; Ortez, Carlos; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Yubero, Delia; Hoenicka, Janet; Jou, Cristina; Palau, Francesc; Beltran, Sergi; Lochmuller, Hanns; Topf, Ana; Nascimento, Andres; Natera-de Benito, Daniel
Academic Journal
Ruiz-Arenas, Carlos; Abarrategui, Leire; Hernandez-Ferrer, Carles; Escribà-Montagut, Xavier; Pelegrí-Sisó, Dolors; Ryser-Welch, Patricia; Vrijheid, Martine; Bustamante, Mariona; Grazuleviciene, Regina; Lepeule, Johanna; Mathai, Mathew; Vafeiadi, Marina; Beltran, Sergi; Pérez-Jurado, Luis A.; González, Juan R
Academic Journal
Köhler, Sebastian; Carmody, Leigh; Vasilevsky, Nicole; Jacobsen, Julius OB; Danis, Daniel; Gourdine, Jean-Philippe; Gargano, Michael; Harris, Nomi L; Matentzoglu, Nicolas; McMurry, Julie A; Osumi-Sutherland, David; Cipriani, Valentina; Balhoff, James P; Conlin, Tom; Blau, Hannah; Baynam, Gareth; Palmer, Richard; Gratian, Dylan; Dawkins, Hugh; Segal, Michael; Jansen, Anna C; Muaz, Ahmed; Chang, Willie H; Bergerson, Jenna; Laulederkind, Stanley JF; Yüksel, Zafer; Beltran, Sergi; Freeman, Alexandra F; Sergouniotis, Panagiotis I; Durkin, Daniel; Storm, Andrea L; Hanauer, Marc; Brudno, Michael; Bello, Susan M; Sincan, Murat; Rageth, Kayli; Wheeler, Matthew T; Oegema, Renske; Lourghi, Halima; Della Rocca, Maria G; Thompson, Rachel; Castellanos, Francisco; Priest, James; Cunningham-Rundles, Charlotte; Hegde, Ayushi; Lovering, Ruth C; Hajek, Catherine; Olry, Annie; Notarangelo, Luigi; Similuk, Morgan; Zhang, Xingmin A; Gómez-Andrés, David; Lochmüller, Hanns; Dollfus, Hélène; Rosenzweig, Sergio; Marwaha, Shruti; Rath, Ana; Sullivan, Kathleen; Smith, Cynthia; Milner, Joshua D; Leroux, Dorothée; Boerkoel, Cornelius F; Klion, Amy; Carter, Melody C; Groza, Tudor; Smedley, Damian; Haendel, Melissa A; Mungall, Chris; Robinson, Peter N
Nucleic Acids Research. 47(D1)
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