المؤلفون: Natera de Benito, Daniel

المساهمون: University/Department: Universitat de Barcelona. Facultat de Medicina

Thesis Advisors: Colomer Oferil, Jaume

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Mutació (Biologia), Mutación (Biología), Mutation (Biology), Fenotip, Fenotipo, Phenotype, Malalties hereditàries, Enfermedades hereditarias, Genetic diseases, Genètica mèdica, Genética médica, Medical genetics, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/461892

المؤلفون: Di Feo, Maria Francesca, Oghabian, Ali, Nippala, Ella, Gautel, Mathias, Jungbluth, Heinz, Forzano, Francesca, Malfatti, Edoardo, Castiglioni, Claudia, Krey, Ilona, Gomez Andres, David, Brady, Angela F., Iascone, Maria, Cereda, Anna, Pezzani, Lidia, Natera De Benito, Daniel, Nascimiento Osorio, Andres, Estévez Arias, Berta, Kurbatov, Sergei A., Attie-Bitach, Tania, Nampoothiri, Sheela, Ryan, Erin, Morrow, Michelle, Gorokhova, Svetlana, Chabrol, Brigitte, Sinisalo, Juha, Tolppanen, Heli, Tolva, Johanna, Munell, Francina, Camacho Soriano, Jessica, Sanchez Duran, Maria Angeles, Johari, Mridul, Tajsharghi, Homa, Hackman, Peter, Udd, Bjarne, Savarese, Marco

المصدر: Annals of Clinical and Translational Neurology. 11(10):2745-2755

مصطلحات موضوعية: Translationell medicin TRIM, Translational Medicine TRIM

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-24485
https://doi.org/10.1002/acn3.52189
https://his.diva-portal.org/smash/get/diva2:1895263/FULLTEXT02.pdf

المؤلفون: Estévez-Arias, Berta, Matalonga, Leslie, Yubero, Delia, Polavarapu, Kiran, Codina, Anna, Ortez, Carlos, Carrera-García, Laura, Expósito-Escudero, Jesica, Jou, Cristina, Meyer, Stefanie, Natera-de Benito, Daniel

المساهمون: Estévez-Arias, Berta, Matalonga, Leslie, Yubero, Delia, Polavarapu, Kiran, Codina, Anna, Ortez, Carlos, Carrera-García, Laura, Expósito-Escudero, Jesica, Jou, Cristina, Meyer, Stefanie, Natera-de Benito, Daniel

Relation: 1699

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/145592
https://doi.org/10.1038/s41431-024-01699-4

المؤلفون: gonzalez casado, pilar, HERRERO DE JAUREGUI, MIGUEL, HERNANDEZ MUÑOZ, FELIPE G., Navascués Benlloch, Patricio de, Girón Blanc, Luis Fernando, Flamenco García, Luis, Ponce-Cárdenas, Jesús María, Mateo Benito, Daniel

مصطلحات موضوعية: Poesía religiosa

وصف الملف: application/pdf

Relation: https://repositorio.sandamaso.es/handle/123456789/10733

الاتاحة: https://repositorio.sandamaso.es/handle/123456789/10733
https://www.youtube.com/playlist?list=PLy8pKqo9YmPDY3wJ59SxcXQ29in3VpH-J

المؤلفون: Benito, Daniel

المصدر: Tradumàtica: traducció i tecnologies de la informació i la comunicació; Núm. 7: L'aplicació del corpus lingüístics a la traducció

وصف الملف: application/pdf

Relation: https://www.raco.cat/index.php/Tradumatica/article/view/154834/206728

URL الوصول: https://www.raco.cat/index.php/Tradumatica/article/view/154834

المؤلفون: Johansson, Lennart F., Laurie, Steve, Spalding, Dylan, Gibson, Spencer, Ruvolo, David, Thomas, Coline, Piscia, Davide, De Andrade, Fernanda, Been, Gerieke, Bijlsma, Marieke, Brunner, Han, Cimerman, Sandi, Dizjikan, Farid Yavari, Ellwanger, Kornelia, Fernandez, Marcos, Freeberg, Mallory, Van De Geijn, Gert-Jan, Kanninga, Roan, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Neerincx, Pieter, Ossowski, Stephanj, Rath, Ana, Roelofs-Prins, Dieuwke, Stok-Benjamins, Marloes, Van Der Velde, K. Joeri, Veal, Colin, Van Der Vries, Gerben, Wadsley, Marc, Warren, Gregory, Zurek, Birte, Keane, Thomas, Graessner, Holm, Beltran, Sergi, Swertz, Morris A, Brookes, Anthony J., Riess, Olaf, Haack, Tobias B., Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Kellner, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, 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, Yaldiz, Burcu, Kleefstra, Tjitske, Riaz, Umar, Warren, Greg, 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, Gut, Ivo Glynne, Laurie, Steven, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, 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, Lišková, Petra, Dolealová, Pavla, Parkinson, Helen, 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, Garcia-Pelaez, Jose, Barbosa-Matos, Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Van Der Velde, Joeri K., Abbott, Kristin M., Frederikse, Wilhemina S. Kerstjens, Zonneveld-Huijssoon, Eveline, 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, EstrellaLópez, 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-Dueñas, 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, Başak, Ayşe Nazll, 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, Isabell, 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

المساهمون: Johansson, Lennart F., Laurie, Steve, Spalding, Dylan, Gibson, Spencer, Ruvolo, David, Thomas, Coline, Piscia, Davide, De Andrade, Fernanda, Been, Gerieke, Bijlsma, Marieke, Brunner, Han, Cimerman, Sandi, Dizjikan, Farid Yavari, Ellwanger, Kornelia, Fernandez, Marco, Freeberg, Mallory, Van De Geijn, Gert-Jan, Kanninga, Roan, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Neerincx, Pieter, Ossowski, Stephanj, Rath, Ana, Roelofs-Prins, Dieuwke, Stok-Benjamins, Marloe, Van Der Velde, K. Joeri, Veal, Colin, Van Der Vries, Gerben, Wadsley, Marc, Warren, Gregory, Zurek, Birte, Keane, Thoma, Graessner, Holm, Beltran, Sergi, Swertz, Morris A, Brookes, Anthony J., Riess, Olaf, Haack, Tobias B., Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Kellner, Melanie, Synofzik, Matthi, Wilke, Carlo, Traschütz, Andrea, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Scheffer, Han, Hoogerbrugge, Nicoline, Hoischen, Alexander, Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karoli, De Voer, Richarda M., Kamsteeg, Erik-Jan, Van De Warrenburg, Bart, Van Os, Nienke, Te Paske, Iri, Janssen, Erik, De Boer, Elke, Steehouwer, Marloe, Yaldiz, Burcu, Kleefstra, Tjitske, Riaz, Umar, Warren, Greg, Shorter, Thoma, 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, Yanni, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Gut, Ivo Glynne, Laurie, Steven, Matalonga, Leslie, Papakonstantinou, Anastasio, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marco, Hernández, Carle

مصطلحات موضوعية: bioinformatic, computational biology, fair data, genetic, infrastructure, rare disease

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/39302238; info:eu-repo/semantics/altIdentifier/wos/WOS:001350076800001; volume:13; numberofpages:14; journal:GIGASCIENCE; https://hdl.handle.net/11365/1277024; https://pmc.ncbi.nlm.nih.gov/articles/PMC11413801/

الاتاحة: https://hdl.handle.net/11365/1277024
https://doi.org/10.1093/gigascience/giae058
https://academic.oup.com/gigascience/article/doi/10.1093/gigascience/giae058/7762471?login=true
https://pmc.ncbi.nlm.nih.gov/articles/PMC11413801/

المؤلفون: Hospital-Benito, Daniel, El-Bijou, R., Dufour, Javier, Palomar Herrero, Jose Francisco

المصدر: Chemical Engineering Journal, 497, 154889, (2024)

مصطلحات موضوعية: COSMO-based/Aspen, Cost estimation, Hythane, Ionic Liquids, Process simulation

Relation: https://doi.org/10.1016/j.cej.2024.154889; oai:zenodo.org:13734246

الاتاحة: https://doi.org/10.1016/j.cej.2024.154889

المؤلفون: Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana, Vissers, Lisenka E. L. M., SOLVE-RD consortium, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Sturm, Marc, Park, Joohyun, Schütz, Leon, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kellner, Melanie, Resch, Baptist, Kolen, Ingrid, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Beijer, Danique, Heutink, Peter, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Boßelmann, Christian, Kegele, Josua, Lauerer-Braun, Robert, Lauxmann, Stephan, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ’t Hoen, Peter A. C., Steyaert, Wouter, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Neveling, Kornelia, van der Sanden, Bart, Sagath, Lydia, Kleefstra, Tjitske, Brookes, Anthony J., Gibson, Spencer, Riaz, Umar, Warren, Greg, Nalagandla, Sai Anuhya, Wang, Yunze Patrick, Sukumaran, Deepthi, Abadijou, Sadegh, 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, Couturier, Victor, Gut, Ivo Glynne, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Codina, Anna Esteve, Dabad, Marc, Gut, Marta, Raineri, Emanuele, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lucano, Caterina, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Ryba, Lukáš, Lišková, Petra, Doležalová, Pavla, Krebsová, Alice, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Bellampalli, Ravishankara, Moloney, Patrick, Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Perry, Luke, Pini, Veronica, Müller, Juliane, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, de Jonghe, Peter, De Ridder, Willem, Weckhuysen, Sarah, Stamberger, Hannah, Millevert, Charissa, Smal, Noor, Nigro, Vincenzo, Morleo, Manuela, Pinelli, Michele, Banfi, Sandro, Torella, Annalaura, Zeuli, Roberta, Zanobio, Mariateresa, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Barbosa-Matos, Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Ruvolo, David, van Gijn, Marielle, Abbott, Kristin M., Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Köhler, Sebastian, Metcalfe, Alison, Moore, Richard, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Jamra, Rami Abou, Abramowicz, Marc, Kiliçarslan, Özge Aksel, Allen, Nicholas, Javier Alonso García de la Rosa, Francisco, Balestrini, Simona, Balicza, Peter, Bartolomaeus, Tobias, Başak, Ayşe Nazl, Masó, Laura Batlle, Beeson, David, Benoit, Valerie, Benson, Katherine, Sánchez, Eva Bermejo, Bijlsma, Emilia K., Bogaert, Elke, Bourbouli, Mara, Boztug, Kaan, Brohée, Sylvain, Byrne, Susan, Garcia de Oteyza, Andrés Caballero, Capella, Gabriel, Carpancea, Evelina, Cavalleri, Gianpiero, Cazurro-Gutiérrez, Ana, Chinnery, Patrick F., Cilio, Maria-Roberta, Ciolfi, Andrea, Claeys, Kristl, Colobran, Roger, Cordts, Isabell, Cossins, Judith, Dahan, Karin, Dallapiccola, Bruno, Delanty, Norman, Depienne, Christel, Depondt, Chantal, Dermaut, Bart, Deschauer, Marcus, Desir, Julie, Destrée, Anne, Drakos, Minas, Duerinckx, Sarah, Estevez, Berta, Evangeliou, Athanasios, Fallerini, Chiara, Ferilli, Marco, Furini, Simone, Gagneur, Julien, Ghani, Hamidah, Greally, Marie, Grimbacher, Bodo, Guerrini, Renzo, Hackman, Peter, Haimel, Matthias, Bouveret, Eva Hammar, Hemelsoet, Dimitri, Herzog, Rebecca, Hoffer, Mariette J. V., Holinski-Feder, Elke, Horvath, Rita, Huibers, Manon, Iacomino, Michele, Johari, Mridul, Kapaki, Elisabeth, Karadurmus, Deniz, Karakaya, Mert, Kokosali, Evgenia, Korff, Christian, Krass, Leon, Lacombe, Didier, Laner, Andreas, Leavis, Helen, Lederer, Damien, Leitão, Elsa, Lochmüller, Hanns, Martín, Estrella López, Luknárová, Rebeka, Macaya, Alfons, Malaichamy, Sivasankar, Marcé-Grau, Anna, Delgado, Beatriz Martínez, Mary, Sandrine, Masclaux, Frédéric, Mathioudakis, Lambros, Maver, Ales, MAY, Patrick, Maystadt, Isabelle, Mei, Davide, Mertes, Christian, Meunier, Colombine, Molnar, Maria Judit, Monestier, Olivier, Moortgat, Stéphanie, Münchau, Alexander, Munell, Francina, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Reghan, Mary O., Olimpio, Catarina, Parrini, Elena, Pauly, Martje, Pérez-Dueñas, Belén, Peterlin, Borut, Platzer, Konrad, Polavarapu, Kiran, Poppe, Bruce, De la Paz, Manuel Posada, Privitera, Flavia, Radio, Francesca Clementina, Ratnaike, Thiloka, Renieri, Alessandra, Riva, Antonella, Rooryck, Caroline, Roos, Andreas, Ruivenkamp, Claudia A. L., Rump, Andreas, Santen, Gijs W. E., Savarese, Marco, Scala, Marcello, Schon, Katherine, Schröck, Evelin, Scudieri, Paolo, Spilioti, Martha, Steinke-Lange, Verena, Striano, Pasquale, Sznajer, Yves, Tartaglia, Marco, Thompson, Rachel, Trimouille, Aurelien, Udd, Bjarne, Uva, Paolo, Valle, Laura, van der Veken, Lars, van Heurck, Roxane, van Montfrans, Joris, Van Nieuwenhove, Erika, Verdin, Hannah, Webb, David, Wirth, Brunhilde, Yépez, Vicente A., Zaganas, Ioannis, Zara, Federico, Zguro, Kristina, Laurie, Steven

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: npj Genomic Medicine, 9 (1) (2024-10-26)

مصطلحات موضوعية: CNVs, Exome sequencing, Rare diseases, Human health sciences, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.nature.com/articles/s41525-024-00436-6.pdf; urn:issn:2056-7944; https://orbilu.uni.lu/handle/10993/62319; info:hdl:10993/62319; https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf

الاتاحة: https://orbilu.uni.lu/handle/10993/62319
https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf
https://doi.org/10.1038/s41525-024-00436-6

المؤلفون: Cioffi, Lucia, Grassi, Daniela, Diviccaro, Silvia, Caruso, Donatella, Pinto-Benito, Daniel, Arevalo, Maria-Angeles, Garcia-Segura, Luis Miguel, Melcangi, R. C., Giatti, Silvia

المساهمون: L. Cioffi, D. Grassi, S. Diviccaro, D. Caruso, D. Pinto-Benito, M. Arevalo, L.M. Garcia-Segura, R.C. Melcangi, S. Giatti

مصطلحات موضوعية: Brain, Ovarie, Sex difference, Sry gene, Testi, Testosterone, Settore MED/13 - Endocrinologia, Settore BIO/10 - Biochimica

Relation: info:eu-repo/semantics/altIdentifier/pmid/38554982; info:eu-repo/semantics/altIdentifier/wos/WOS:001224962000001; volume:241; firstpage:1; lastpage:11; numberofpages:11; journal:JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY; https://hdl.handle.net/2434/1095188; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85189831376

الاتاحة: https://hdl.handle.net/2434/1095188
https://doi.org/10.1016/j.jsbmb.2024.106514

المؤلفون: Pinto-Benito, Daniel, Paradela Leal, Carmen, Ganchala, Danny, Castro-Molina, Paula de, Arevalo, Maria-Angeles

المساهمون: Universidad de Sevilla. Departamento de Fisiología Médica y Biofísica

مصطلحات موضوعية: IGF-1, Neuroinflammation, Phagocytosis, PI3K-isoforms, Sex differences

Relation: https://idus.us.es/handle//11441/156977

الاتاحة: https://idus.us.es/handle//11441/156977

المؤلفون: Fuente Benito, Daniel de la

Relation: Publications de l'Institut Mathematique, 104, issue 118; info:eu-repo/grantAgreement/MINECO//MTM2014-52232-P/ES/ECUACIONES DIFERENCIALES CON SINGULARIDADES Y DINAMICA EN DIMENSIONES BAJAS/; https://doi.org/10.2298/PIM1818121D; https://hdl.handle.net/10651/72418

الاتاحة: https://hdl.handle.net/10651/72418
https://doi.org/10.2298/PIM1818121D

المؤلفون: Fuente Benito, Daniel de la, Rubio Ruiz, Rafael M., Salamanca Jurado, Juan Jesús

المصدر: Scopus ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85174807844&doi=10.1063%2f5.0164715&partnerID=40&md5=944868cb4936245e0d6c964bf4cbacc6

Relation: Journal of Mathematical Physics; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2021-2023/PID2021-126217NB-I00/ES/ANALISIS GEOMETRICO Y DE ESTRUCTURAS CONFORMES CON APLICACIONES A LA FISICA MATEMATICA/; http://dx.doi.org/10.1063/5.0164715; Journal of Mathematical Physics, 64(10) (2023); doi:10.1063/5.0164715; https://hdl.handle.net/10651/72173

الاتاحة: https://hdl.handle.net/10651/72173
https://doi.org/10.1063/5.0164715

المؤلفون: Fuente Benito, Daniel de la, Palomo, Francisco J., Romero, Alfonso

مصطلحات موضوعية: Spacelike surface, Liebmann theorem, Lorentzian space forms

Relation: Bulletin of the Malaysian Mathematical Sciences Society, Vol. 42; https://doi.org/10.1007/s40840-017-0557-x; https://hdl.handle.net/10651/72017

الاتاحة: https://hdl.handle.net/10651/72017

المؤلفون: Martínez Olorón, Patricia, Alegría, Iosune, Cesar, Sergi, Olmo, Bernat del, Martínez-Barrios, Estefanía, Carrera-García, Laura, Natera-de Benito, Daniel, Nascimento, Andrés, Campuzano Larrea, Oscar, Sarquella Brugada, Geòrgia

المصدر: International Journal of Molecular Sciences, 2024, vol. 25, núm. 11, p. 5836 ; Articles publicats (D-CM)

مصطلحات موضوعية: Distròfia muscular -- Aspectes genètics, Muscular dystrophy -- Genetic aspects, Cromosomes humans -- Anomalies -- Diagnòstic, Human chromosome abnormalities -- Diagnosis, Cardiologia pediàtrica, Pediatric cardiology, Arrítmia en els infants, Arrhythmia in children

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/issn/1661-6596; info:eu-repo/semantics/altIdentifier/eissn/1422-0067; http://hdl.handle.net/10256/25012

الاتاحة: http://hdl.handle.net/10256/25012

المؤلفون: Galarza Tejada, Dulce María, Chávez Rodríguez, Alejandro, Palacios Rodríguez, Oscar Alejandro, Estrada Aranda, Benito Daniel

المصدر: Brazilian Journal of Mental Health; Vol. 16 No. 47 (2024): .; 70-93 ; Cadernos Brasileiros de Saúde Mental/Brazilian Journal of Mental Health; v. 16 n. 47 (2024): .; 70-93 ; 2595-2420 ; 1984-2147 ; 10.5007/cbsm.v16i47

وصف الملف: application/pdf

Relation: https://periodicos.ufsc.br/index.php/cbsm/article/view/84352/55837; https://periodicos.ufsc.br/index.php/cbsm/article/view/84352

الاتاحة: https://periodicos.ufsc.br/index.php/cbsm/article/view/84352

المؤلفون: Palomar Herrero, José Francisco, Lemus Torres, Jesús, Navarro Tejedor, Pablo, Moya Álamo, Cristian, Santiago Lorenzo, Rubén, Hospital Benito, Daniel, Hernández, Elena

المساهمون: UAM. Departamento de Ingeniería Química

مصطلحات موضوعية: Catalysts, Cations, CO2, Química

وصف الملف: application/pdf

Relation: Chemical Reviews; https://doi.org/10.1021/acs.chemrev.3c00512; Gobierno de España. PID2020-118259RB-I00; Gobierno de España. TED2021-129803A-I00; http://hdl.handle.net/10486/711151; 1649; 1737; 124

الاتاحة: http://hdl.handle.net/10486/711151
https://doi.org/10.1021/acs.chemrev.3c00512

المؤلفون: Allen, Nicholas M., O’Rahelly, Mark, Eymard, Bruno, Chouchane, Mondher, Hahn, Andreas, Kearns, Gerry, Kim, Dae-Seong, Byun, Shin Yun, Nguyen, Cam-Tu Emilie, Schara-Schmidt, Ulrike, Kölbel, Heike, Marina, Adela Della, Schneider-Gold, Christiane, Roefke, Kathryn, Thieme, Andrea, Van den Bergh, Peter, Avalos, Gloria, Álvarez-Velasco, Rodrigo, Natera-de Benito, Daniel, Cheng, Man Hin Mark, Chan, Wing Ki, Wan, Hoi Shan, Thomas, Mary Ann, Borch, Lauren, Lauzon, Julie, Kornblum, Cornelia, Reimann, Jens, Mueller, Andreas, Kuntzer, Thierry, Norwood, Fiona, Ramdas, Sithara, Jacobson, Leslie W., Jie, Xiaobo, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Lim, Ming, Lin, Jean Pierre, Claeys, Kristl G., Aktas, Selma, Oskoui, Maryam, Hacohen, Yael, Masud, Ameneh, Leite, M Isabel, Palace, Jacqueline, De Vivo, Darryl, Vincent, Angela, Jungbluth, Heinz

مصطلحات موضوعية: myasthenia gravis, arthrogryposis multiplex congenita, fetal acetylcholine receptor inactivation syndrome, transient neonatal myasthenia gravis, congenital myopathy, salbutamol

وصف الملف: application/pdf

Relation: Brain; Allen, Nicholas M, O’Rahelly, Mark, Eymard, Bruno, Chouchane, Mondher, Hahn, Andreas, Kearns, Gerry, Kim, Dae-Seong, Byun, Shin Yun, Nguyen, Cam-Tu Emilie, Schara-Schmidt, Ulrike, Kölbel, Heike, Marina, Adela Della, Schneider-Gold, Christiane, Roefke, Kathryn, Thieme, Andrea, Van den Bergh, Peter, Avalos, Gloria, Álvarez-Velasco, Rodrigo, Natera-de Benito, Daniel, Cheng, Man Hin Mark, Chan, Wing Ki, Wan, Hoi Shan, Thomas, Mary Ann, Borch, Lauren, Lauzon, Julie, Kornblum, Cornelia, Reimann, Jens, Mueller, Andreas, Kuntzer, Thierry, Norwood, Fiona, Ramdas, Sithara, Jacobson, Leslie W, Jie, Xiaobo, Fernandez-Garcia, Miguel A, Wraige, Elizabeth, Lim, Ming, Lin, Jean Pierre, Claeys, Kristl G., Aktas, Selma, Oskoui, Maryam, Hacohen, Yael, Masud, Ameneh, Leite, M Isabel, Palace, Jacqueline, De Vivo, Darryl, Vincent, Angela, Jungbluth, Heinz. (2023). The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD). Brain, 146(10), 4233-4246. doi:10.1093/brain/awad153; http://hdl.handle.net/10379/18015

الاتاحة: http://hdl.handle.net/10379/18015
https://doi.org/10.1093/brain/awad153

المؤلفون: Armijo Gómez, Jesus Alfonso, Fernandez‐Garcia, Miguel A., Camacho, Ana, Liz, Marlin, Ortez, Carlos, Lafuente‐Hidalgo, Miguel, Toledo Bravo‐de Laguna, Laura, Estévez‐Arias, Berta, Carrera‐García, Laura, Expósito‐Escudero, Jessica, Domínguez‐Carral, Jana, Nascimento, Andres, Natera‐de Benito, Daniel

المساهمون: Instituto de Salud Carlos III, European Commission

المصدر: Annals of Clinical and Translational Neurology ; volume 11, issue 6, page 1456-1464 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.52058
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.52058

المؤلفون: Nematollahi, Shahrzad, Dieterich, Klaus, Filges, Isabel, De Vries, Johanna I. P., Van Bosse, Harold, Natera de Benito, Daniel, Hall, Judith G., Sawatzky, Bonita, Bedard, Tanya, Sanchez, Victoria Castillo, Navalon‐Martinez, Carolina, Pan, Tony, Hilton, Coleman, Dahan‐Oliel, Noémi

المصدر: Developmental Medicine & Child Neurology ; volume 66, issue 10 ; ISSN 0012-1622 1469-8749

الاتاحة: https://doi.org/10.1111/dmcn.15914
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.15914

المؤلفون: Nematollahi, Shahrzad, Dieterich, Klaus, Filges, Isabel, De Vries, Johanna I. P., Van Bosse, Harold, Natera‐De Benito, Daniel, Hall, Judith G., Sawatzky, Bonita, Bedard, Tanya, Sanchez, Victoria Castillo, Navalon‐Martinez, Carolina, Pan, Tony, Hilton, Coleman, Dahan‐Oliel, Noémi

المصدر: Developmental Medicine & Child Neurology ; volume 66, issue 10 ; ISSN 0012-1622 1469-8749

الاتاحة: https://doi.org/10.1111/dmcn.15915
https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.15915