المؤلفون: Enacán, Rosa E., Miñana, Mariana Nuñez, Fernandez, Luis, Valle, Maria Gabriela, Salerno, Mercedes, Fraga, Claudia I., Santos-Simarro, Fernando, Prieto, Laura, Lapunzina, Pablo, Specola, Norma, Chiesa, Ana Elena

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2019 7

مصطلحات موضوعية: Pku, genotype, phenylalanine hydroxylase

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100309

المؤلفون: Gargano, Michael A, Matentzoglu, Nicolas, Coleman, Ben, Addo-Lartey, Eunice B, Anagnostopoulos, Anna V, Anderton, Joel, Avillach, Paul, Bagley, Anita M, Bakštein, Eduard, Balhoff, James P, Baynam, Gareth, Bello, Susan M, Berk, Michael, Bertram, Holli, Bishop, Somer, Blau, Hannah, Bodenstein, David F, Botas, Pablo, Boztug, Kaan, Čady, Jolana, Callahan, Tiffany J, Cameron, Rhiannon, Carbon, Seth J, Castellanos, Francisco, Caufield, J Harry, Chan, Lauren E, Chute, Christopher G, Cruz-Rojo, Jaime, Dahan-Oliel, Noémi, Davids, Jon R, de Dieuleveult, Maud, de Souza, Vinicius, de Vries, Bert BA, de Vries, Esther, DePaulo, J Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander JM, Donadille, Bruno, Duyzend, Michael, Elfeky, Reem, Essaid, Shahim, Fabrizzi, Carolina, Fico, Giovanna, Firth, Helen V, Freudenberg-Hua, Yun, Fullerton, Janice M, Gabriel, Davera L, Gilmour, Kimberly, Giordano, Jessica, Goes, Fernando S, Moses, Rachel Gore, 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 Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius OB, Jiang, Xiaofeng, Joseph, Lisa, Keramatian, Kamyar, King, Bryan, Knoflach, Katrin, Koolen, David A, Kraus, Megan L, Kroll, Carlo, Kusters, Maaike, Ladewig, Markus S, Lagorce, David, Lai, Meng-Chuan, Lapunzina, Pablo, Laraway, Bryan, Lewis-Smith, David, Li, Xiarong, Lucano, Caterina, Majd, Marzieh, Marazita, Mary L, Martinez-Glez, Victor, McHenry, Toby H, McInnis, Melvin G, McMurry, Julie A, Mihulová, Michaela, Millett, Caitlin E, Mitchell, Philip B, Moslerová, Veronika, Narutomi, Kenji, Nematollahi, Shahrzad, Nevado, Julian

المصدر: Nucleic Acids Research. 52(D1)

مصطلحات موضوعية: Biological Sciences, Genetics, Networking and Information Technology R&D (NITRD), Human Genome, Machine Learning and Artificial Intelligence, Good Health and Well Being, Humans, Biological Ontologies, Phenotype, Genomics, Algorithms, Rare Diseases, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7956s6h6
https://escholarship.org/content/qt7956s6h6/qt7956s6h6.pdf

المؤلفون: 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

المصدر: Genetics and Molecular Biology. January 2014 37(1)

مصطلحات موضوعية: microdeletion, microduplication, chromosome rearrangement, novel deletions, novel duplications

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200007

المؤلفون: Lapunzina, Pablo, López, Rocío Ortiz, Rodríguez-Laguna, Lara, García-Miguel, Purificación, Martínez, Augusto Rojas, Martínez-Glez, Víctor

المصدر: Genetics and Molecular Biology. January 2014 37(1)

مصطلحات موضوعية: NGS, new technologies, developmental syndrome, cancer predisposition

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200010

المؤلفون: Cardoso, Leila C.A., Castaño, Jair A. Tenorio, Pereira, Hanna S., Lima, Maria Angélica de F.D., Santos, Anna Cláudia E. dos, Faria, Paulo S. de, Ferman, Sima, Seuánez, Héctor N., Nevado, Julián B., Almeida, José Carlos Cabral de, Lapunzina, Pablo, Vargas, Fernando R.

المصدر: Genetics and Molecular Biology. January 2012 35(4)

مصطلحات موضوعية: epigenetic, histopathology, methylation, MS-MLPA, pyrosequencing

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500002

المؤلفون: Dhombres, Ferdinand, Morgan, Patricia, Chaudhari, Bimal P, Filges, Isabel, Sparks, Teresa N, Lapunzina, Pablo, Roscioli, Tony, Agarwal, Umber, Aggarwal, Shagun, Beneteau, Claire, Cacheiro, Pilar, Carmody, Leigh C, Collardeau‐Frachon, Sophie, Dempsey, Esther A, Dufke, Andreas, Duyzend, Michael Henri, Ghosh, Mirna, Giordano, Jessica L, Glad, Ragnhild, Grinfelde, Ieva, Iliescu, Dominic G, Ladewig, Markus S, Munoz‐Torres, Monica C, Pollazzon, Marzia, Radio, Francesca Clementina, Rodo, Carlota, Silva, Raquel Gouveia, Smedley, Damian, Sundaramurthi, Jagadish Chandrabose, Toro, Sabrina, Valenzuela, Irene, Vasilevsky, Nicole A, Wapner, Ronald J, Zemet, Roni, Haendel, Melissa A, Robinson, Peter N

المصدر: American Journal of Medical Genetics Part C Seminars in Medical Genetics. 190(2)

مصطلحات موضوعية: Genetics, Human Genome, Clinical Research, Congenital Structural Anomalies, Prevention, Pediatric, Perinatal Period - Conditions Originating in Perinatal Period, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Neurological, Reproductive health and childbirth, Good Health and Well Being, Infant, Newborn, Humans, Female, Pregnancy, Placenta, Computational Biology, Phenotype, Rare Diseases, Exome Sequencing, HPO, human phenotype ontology, GA4GH Phenopacket, prenatal diagnosis, fetal pathology, prenatal phenotyping, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9m25x832

المؤلفون: Pairo-Castineira, Erola^{Aff1, Aff2, Aff3}, Rawlik, Konrad, Bretherick, Andrew D.^{Aff1, Aff2, Aff4}, Qi, Ting^{Aff5, Aff6}, Wu, Yang, Nassiri, Isar, McConkey, Glenn A., Zechner, Marie^{Aff1, Aff3}, Klaric, Lucija, Griffiths, Fiona^{Aff1, Aff3}, Oosthuyzen, Wilna^{Aff1, Aff3}, Kousathanas, Athanasios, Richmond, Anne, Millar, Jonathan^{Aff1, Aff3, Aff11}, Russell, Clark D., Malinauskas, Tomas, Thwaites, Ryan, Morrice, Kirstie, Keating, Sean, Maslove, David, Nichol, Alistair, Semple, Malcolm G.^{Aff16, Aff17}, Knight, Julian, Shankar-Hari, Manu^{Aff11, Aff18}, Summers, Charlotte, Hinds, Charles, Horby, Peter, Ling, Lowell, McAuley, Danny^{Aff23, Aff24}, Montgomery, Hugh, Openshaw, Peter J. M.^{Aff12, Aff26}, Begg, Colin, Walsh, Timothy, Tenesa, Albert^{Aff2, Aff3, Aff28}, Flores, Carlos^{Aff29, Aff30, Aff31, Aff32}, Riancho, José A.^{Aff33, Aff34, Aff35}, Rojas-Martinez, Augusto, Lapunzina, Pablo^{Aff37, Aff38, Aff39}, Yang, Jian^{Aff5, Aff6}, Ponting, Chris P., Wilson, James F.^{Aff2, Aff28}, Vitart, Veronique, Abedalthagafi, Malak^{Aff40, Aff41}, Luchessi, Andre D.^{Aff42, Aff43}, Parra, Esteban J., Cruz, Raquel^{Aff37, Aff44}, Carracedo, Angel^{Aff37, Aff44, Aff45, Aff46}, Fawkes, Angie, Murphy, Lee, Rowan, Kathy, Pereira, Alexandre C., Law, Andy, Fairfax, Benjamin, Hendry, Sara Clohisey^{Aff1, Aff3}, Baillie, J. Kenneth^{Aff1, Aff2, Aff3, Aff11, IDs41586023060343_cor59}

المصدر: Nature: International weekly journal of science. 617(7962):764-768

المؤلفون: Cruz, Raquel, Diz-de Almeida, Silvia, López de Heredia, Miguel, Quintela, Inés, Ceballos, Francisco C, Pita, Guillermo, Lorenzo-Salazar, José M, González-Montelongo, Rafaela, Gago-Domínguez, Manuela, Sevilla Porras, Marta, Tenorio Castaño, Jair Antonio, Nevado, Julian, Aguado, Jose María, Aguilar, Carlos, Aguilera-Albesa, Sergio, Almadana, Virginia, Almoguera, Berta, Alvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, Arango, Celso, Arranz, María J, Artiga, Maria-Jesus, Baptista-Rosas, Raúl C, Barreda-Sánchez, María, Belhassen-Garcia, Moncef, Bezerra, Joao F, Bezerra, Marcos A C, Boix-Palop, Lucía, Brion, María, Brugada, Ramón, Bustos, Matilde, Calderón, Enrique J, Carbonell, Cristina, Castano, Luis, Castelao, Jose E, Conde-Vicente, Rosa, Cordero-Lorenzana, M Lourdes, Cortes-Sanchez, Jose L, Corton, Marta, Darnaude, M Teresa, De Martino-Rodríguez, Alba, Del Campo-Pérez, Victor, Diaz de Bustamante, Aranzazu, Domínguez-Garrido, Elena, Luchessi, Andre D, Eiros, Rocío, Estigarribia Sanabria, Gladys Mercedes, Carmen Fariñas, María, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gil-Fournier, Belén, Gómez-Arrue, Javier, González Álvarez, Beatriz, Gonzalez Bernaldo de Quirós, Fernan, González-Peñas, Javier, Gutiérrez-Bautista, Juan F, Herrero, María José, Herrero-Gonzalez, Antonio, Jimenez-Sousa, María A, Lattig, María Claudia, Liger Borja, Anabel, Lopez-Rodriguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martinez-Nieto, Oscar, Martinez-Lopez, Iciar, Martinez-Resendez, Michel F, Martinez-Perez, Angel, Mazzeu, Juliana F, Merayo Macías, Eleuterio, Minguez, Pablo, Moreno Cuerda, Victor, Silbiger, Vivian N, Oliveira, Silviene F, Ortega-Paino, Eva, Parellada, Mara, Paz-Artal, Estela, Santos, Ney P C, Pérez-Matute, Patricia, Perez, Patricia, Pérez-Tomás, M Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N, Porras-Hurtado, Gloria L, Pujol, Aurora, Ramiro León, Soraya, Resino, Salvador, Fernandes, Marianne R, Rodríguez-Ruiz, Emilio, Rodriguez-Artalejo, Fernando, Rodriguez-Garcia, José A, Ruiz Cabello, Francisco, Ruiz-Hornillos, Javier, Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos, Tamayo, Eduardo, Tamayo-Velasco, Alvaro, Taracido-Fernandez, Juan Carlos, Teper, Alejandro, Torres-Tobar, Lilian, Urioste, Miguel, Valencia-Ramos, Juan, Yáñez, Zuleima, Zarate, Ruth, Nakanishi, Tomoko, Pigazzini, Sara, Degenhardt, Frauke, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Bujanda, Luis, Bouysran, Youssef, Palom, Adriana, Ellinghaus, David, Martínez-Bueno, Manuel, Rolker, Selina, Amitrano, Sara, Roade, Luisa, Fava, Francesca, Spinner, Christoph D, Prati, Daniele, Bernardo, David, Garcia, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Holter, Jan Cato, Banales, Jesus M, Frithiof, Robert, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre C, Romero-Gómez, Manuel, Nafría-Jiménez, Beatriz, Hov, Johannes R, Migeotte, Isabelle, Renieri, Alessandra, Planas, Anna M, Ludwig, Kerstin U, Buti, Maria, Rahmouni, Souad, Alarcón-Riquelme, Marta E, Schulte, Eva C, Franke, Andre, Karlsen, Tom H, Valenti, Luca, Zeberg, Hugo, Richards, Brent, Ganna, Andrea, Boada, Mercè, de Rojas, Itziar, Ruiz, Agustín, Sánchez-Juan, Pascual, Real, Luis Miguel, Guillen-Navarro, Encarna, Ayuso, Carmen, González-Neira, Anna, Riancho, José A, Rojas-Martinez, Augusto, Flores, Carlos, Lapunzina, Pablo, Carracedo, Angel

المصدر: Human Molecular Genetics. 31(22):3789-3806

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-514625
https://doi.org/10.1093/hmg/ddac132
https://uu.diva-portal.org/smash/get/diva2:1806010/FULLTEXT01.pdf

المؤلفون: Pérez-Jurado, Luis A.^{Aff1, Aff2, Aff3, IDs42003024058056_cor1}, Cáceres, Alejandro^{Aff4, Aff5}, Balagué-Dobón, Laura^{Aff4, Aff5}, Esko, Tonu^{Aff6, Aff7}, López de Heredia, Miguel, Quintela, Inés^{Aff3, Aff8}, Cruz, Raquel^{Aff3, Aff8, Aff9, Aff10}, Lapunzina, Pablo^{Aff3, Aff11, Aff12}, Carracedo, Ángel^{Aff3, Aff8, Aff9, Aff10, Aff13}, González, Juan R.^{Aff4, Aff5, Aff14, IDs42003024058056_cor11}

المصدر: Communications Biology. 7(1)

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