المؤلفون: Guelfi, Sebastian, D'Sa, Karishma, Botía, Juan A., Vandrovcova, Jana, Reynolds, Regina H., Zhang, David, Trabzuni, Daniah, Collado-Torres, Leonardo, Thomason, Andrew, Quijada Leyton, Pedro, Gagliano Taliun, Sarah A., Nalls, Mike A., Noyce, Alastair J., Nicolas, Aaude, Cookson, Mark R., Bandres-Ciga, Sara, Gibbs, J. Raphael, Hernandez, Dena G., Singleton, Andrew B., Reed, Xylena, Leonard, Hampton L, Blauwendraat, Cornelis, Faghri, Faraz, Bras, Jose, Guerreiro, Rita, Tucci, Arianna, Kia, Demis A., Houlden, Henry, Plun-Favreau, Helene, Mok, Kin Ying, Wood, Nicholas W., Lovering, Ruth Caroline, R'Bibo, Lea, Rizig, Mie, Chelban, Viorica, Tan, Manuela, Morris, Huw, Middlehurst, Ben, Quinn, John, Billingsley, Kimberley, Holmans, Peter, Kinghorn, Kerri J., Lewis, Patrick, Escott-Price, Valentina, Williams, Nigel, Foltynie, Thomas, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria M., Giri, Anamika, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Gasser, Thomas, Rizzu, Patrizia, Sharma, Manu, Shulman, Joshua M., Robak, Laurie, Lubbe, Steven, Mencacci, Niccolò Emanuele, Finkbeiner, Steven, Lungu, Codrin, Scholz, Sonja, Gan-Or, Ziv, Rouleau, Guy A., Krohan, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, A.D, Bernal-Bernal, Inmaculada, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Carrillo, Fátima, Carrión-Claro, M, Mir, Pablo, Gómez-Garre, Pilar, Jesús, Silvia, Labrador-Espinosa, Miguel A., Macias, Daniel, Vargas-González, Laura, Méndez-del-Barrio, Carlota, Periñán, Teresa, Tejera-Parrado, Cristina, Diez-Fairen, Monica, Aguilar, Miquel, Alvarez, Ignacio, Boungiorno, María Teresa, Carcel, Maria, Pastor, Pau, Tartari, Juan Pablo, Alvarez, Victoria, Mendez-Gonzalez, Manuel, Blazquez, Marta, Garcia, Ciara, Suarez-Sanmartin, Esther, Barrero, Francisco Javier, Mondragon Rezola, Elisabet, Bergareche Yarza, Jesús Alberto, Pagola, Ana Gorostidi, de Munain Arregui, Adolfo Lopez, Ruiz-Martínez, Javier, Cerdan, Debora, Duarte, Jacinto, Clarimón, Jordi, Dols Icardo, Oriol, Infante, Jon, Marín, Juan, Kulisevsky, Jaime, Pagonabarraga Mora, Javier, Gonzalez-Aramburu, Isabel, Sanchez Rodriguez, Antonio, Sierra, Maria, Duran, Raquel, Ruz, Clara, Vives, Francisco, Escamilla Sevilla, Francisco, Mínguez-Castellanos, Adolfo, Cámara, Ana, Compta, Yaroslau, Ezquerra, Mario, Marti, Maria Jose, Fernández, Manel, Muñoz, Esteban, Fernández-Santiago, Rubén, Tolosa, Eduard, Valldeoriola, Francesc, García-Ruiz, Pedro, Gómez-Heredia, Maria José, Perez Errazquin, Francisco, Hoenicka, Janet, Jiménez-Escrig, Adriano, Martínez-Castrillo, Juan Carlos, Lopez-Sendon, Jose Luis, Martinez Torres, Irene, Tabernero, Cesar, Vela, Lydia, Zimprich, Alexander, Pihlstrom, Lasse, Koks, Sulev, Taba, Pille, Majamaa, Kari, Siitonen, Ari, Okubadejo, Njideka, Ojo, Oluwadamilola, Forabosco, Paola, Walker, Robert, Small, Kerrin, Smith, Colin, Ramasamy, Adaikalavan, Hardy, John, Weale, Michael, Ryten, Mina, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Gene regulation, Genetics of the nervous system, RNA sequencing, RNA splicing

وصف الملف: application/pdf

العلاقة: Nature communications; Vol. 11 Núm. 1 (january 2020), p. 1041; https://ddd.uab.cat/record/283724Test; urn:10.1038/s41467-020-14483-x; urn:oai:ddd.uab.cat:283724; urn:scopus_id:85081072099; urn:articleid:20411723v11n1p1041; urn:pmid:32098967; urn:pmc-uid:7042265; urn:pmcid:PMC7042265; urn:oai:pubmedcentral.nih.gov:7042265; urn:oai:egreta.uab.cat:publications/648ea641-e2bb-43cc-983e-7bc35843c64b

الإتاحة: https://ddd.uab.cat/record/283724Test

المؤلفون: Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius O. B., Danis, Daniel, Gourdine, Jean-Philippe, Gargano, Michael A., Harris, Nomi, 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, Muaz, Ahmed, Chang, Willie H., Bergerson, Jenna, Laulederkind, Stanley, Yüksel, Z., Beltran i Agulló, Sergi, Freeman, Alexandra F., Sergouniotis, Panos, Durkin, Daniel, Storm, Andrea L., Hanauer, Marc, Brudno, Michael, Bello, Susan, Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T., Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G., Thompson, R., Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth Caroline, Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin, Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D., Leroux, Dorothée, Boerkoel, Cornelius, Klion, Amy, Carter, Melody C., Groza, Tudor, Smedley, Damian, Haendel, Melissa Anne, Mungall, Christopher, Robinson, Peter N., Universitat Autònoma de Barcelona

مصطلحات موضوعية: Biological Ontologies, Computational Biology, Congenital Abnormalities, Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Humans, Internet, Knowledge Bases, Phenotype, Rare Diseases, Whole Genome Sequencing

وصف الملف: application/pdf

العلاقة: Nucleic acids research; Vol. 47 Núm. D1 (august 2019), p. D1018-D1027; https://ddd.uab.cat/record/223246Test; urn:10.1093/nar/gky1105; urn:oai:ddd.uab.cat:223246; urn:scopus_id:85059796063; urn:articleid:13624962v47nD1D1018; urn:pmid:30476213; urn:pmc-uid:6324074; urn:pmcid:PMC6324074; urn:oai:pubmedcentral.nih.gov:6324074

الإتاحة: https://ddd.uab.cat/record/223246Test

المؤلفون: Li, Kan Yan Chloe, Cook, Andrew C, Lovering, Ruth Caroline

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::77ab601b9fc062ac22f99cca1ba29910Test