학술논문
'학술논문'
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Academic Journal
Nevado, Julián; Mergener, Rafaella; Palomares-Bralo, María; Souza, Karen Regina; Vallespín, Elena; Mena, Rocío; Martínez-Glez, Víctor; Mori, María Ángeles; Santos, Fernando; García-Miñaur, Sixto; García-Santiago, Fé; Mansilla, Elena; Fernández, Luis; Torres, María Luisa de; Riegel, Mariluce; Lapunzina, Pablo
Genetics and Molecular Biology. January 2014 37(1)
Academic Journal
Schön, Michael; Lapunzina, Pablo; Nevado, Julián; Mattina, Teresa; Gunnarsson, Cecilia; Hadzsiev, Kinga; Verpelli, Chiara; Bourgeron, Thomas; Jesse, Sarah; van Ravenswaaij-Arts, Conny M.A.; Hennekam, Raoul C.
In European Journal of Medical Genetics July 2023 66(7)
Academic Journal
Gaasterland, C.M.W.; Klein Haneveld, M.J.; Vyshka, Klea; Hugon, A.; van Eeghen, A.M.; Alhambra, Norma; Anderlid, Britt-Marie; Andres, Stephanie; Aten, Emmelien; Guedes, Rui Barbosa; Bonaglia, Maria C.; Bourgeron, Thomas; Burdeus-Olavarrieta, Monica; Carbin, Maya J.; Cooke, Jennifer; Damstra, Robert J.; de Coo, Irenaeus F.M.; Di Domenico, Stella; Evans, D. Gareth; Fernández-Fructuoso, José Ramón; Grabrucker, Andreas M.; Gunnarson, Cecilia; Hadzsiev, Kinga; Hennekam, Raoul C.; Jesse, Sarah; Kant, Sarina G.; Koza, Sylvia A.; Kuiper, Els; Landlust, Annemiek M.; Lapunzina, Pablo; Loth, Eva; Mansour, Sahar; Maruani, Anna; Mattina, Teresa; Matulevičienė, Aušra; Nevado, Julián; Parker, Susanne; Robert, Sandra; Sala, Carlo; San José Cáceres, Antonia; Schön, Michael; Šiaurytė, Kamilė; Stemkens, Daphne; Stiefsohn, Dominique; Swillen, Ann; Tabet, Anne C.; Toro, Roberto; Turner, Alison; van Balkom, Ingrid D.C.; van Buggenhout, Griet; van Eeghen, Agnies M.; van Ravenswaaij-Arts, Conny M.A.; van Weering, Sabrina; Verpelli, Chiara; Vignes, Stephane; Vogels, Annick; Walinga, Margreet; Stemkens, D.; Maruani, A.; Hadzsiev, K.; van Balkom, I.D.C.
In European Journal of Medical Genetics July 2023 66(7)
Academic Journal
Burdeus-Olavarrieta, Monica; Nevado, Julián; van Weering-Scholten, Sabrina; Parker, Susanne; Swillen, Ann
In European Journal of Medical Genetics May 2023 66(5)
Academic Journal
Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P.Y. Billie; Weksberg, Rosanna
In The American Journal of Human Genetics 6 October 2022 109(10):1867-1884
Academic Journal
Iturrate, Asier; Rivera-Barahona, Ana; Flores, Carmen-Lisset; Otaify, Ghada A.; Elhossini, Rasha; Perez-Sanz, Marina L.; Nevado, Julián; Tenorio-Castano, Jair; Triviño, Juan Carlos; Garcia-Gonzalo, Francesc R.; Piceci-Sparascio, Francesca; De Luca, Alessandro; Martínez, Leopoldo; Kalaycı, Tugba; Lapunzina, Pablo; Altunoglu, Umut; Aglan, Mona; Abdalla, Ebtesam; Ruiz-Perez, Victor L.
In The American Journal of Human Genetics 6 October 2022 109(10):1828-1849
Academic Journal
Esteban-Cantos, Andrés ; Rodríguez-Centeno, Javier ; Barruz, Pilar; Alejos, Belén; Saiz-Medrano, Gabriel; Nevado, Julián; Martin, Artur; Gayá, Francisco; De Miguel, Rosa; Bernardino, Jose I; Montejano, Rocío; Mena-Garay, Beatriz; Cadiñanos, Julen; Florence, Eric; Mulcahy, Fiona; Banhegyi, Denes; Antinori, Andrea; Pozniak, Anton; Wallet, Cédrick; Raffi, François; Rodés, Berta; Arribas, Jose R
In The Lancet HIV April 2021 8(4):e197-e205
Academic Journal
Luce, Leonela; Abelleyro, Martín M.; Carcione, Micaela; Mazzanti, Chiara; Rossetti, Liliana; Radic, Pamela; Szijan, Irene; Menazzi, Sebastián; Francipane, Liliana; Nevado, Julián; Lapunzina, Pablo; De Brasi, Carlos; Giliberto, Florencia
In Neuromuscular Disorders March 2021 31(3):253-263
Academic Journal
Ziats, Catherine A.; Jain, Lavanya; McLarney, Brittany; Vandenboom, Emily; DuPont, Barbara R.; Rogers, Curtis; Sarasua, Sara; Nevado, Julian; Cordisco, Emanuela Lucci; Phelan, Katy; Boccuto, Luigi
In European Journal of Medical Genetics November 2020 63(11)
Academic Journal
Castellanos, Francisco; Caufield, J; Chan, Lauren; Chute, Christopher; Cruz-Rojo, Jaime; Dahan-Oliel, Noémi; Davids, Jon; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert; de Vries, Esther; DePaulo, J; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen; Freudenberg-Hua, Yun; Fullerton, Janice; Gabriel, Davera; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando; Moses, Rachel; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanušová, Kateřina; He, Yongqun; Hegde, Harshad; Helbig, Ingo; Holasová, Kateřina; Hoyt, Charles; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David; Kraus, Megan; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary; Martinez-Glez, Victor; McHenry, Toby; McInnis, Melvin; McMurry, Julie; Mihulová, Michaela; Millett, Caitlin; Mitchell, Philip; Moslerová, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew; Čajbiková, Nikola; Nurnberger, John; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad; Roy, Suzy; Schuetz, Catharina; Schulte, Eva; Schulze, Thomas; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold
Nucleic Acids Research. 52(D1)
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[AR] Nevado, Julian
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