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, Human Genome, Machine Learning and Artificial Intelligence, Networking and Information Technology R&D (NITRD), 4.1 Discovery and preclinical testing of markers and technologies, Generic health relevance, 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: 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: 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., Dieuleveult, Maudde, Souza, Viniciusde, de Vries, Bert B.A., Vries, Estherde, DePaulo, J. Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J.M., 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 O.B., 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, Nierenberg, Andrew A., Čajbiková, Nikola Novák, Nurnberger, John I., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Nanclares, Guiomar Perezde, Peters, Amy, Putman, Tim, Rapp, Christina K., Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M., Roy, Suzy, Sanders, Stephan J., Schuetz, Catharina, Schulte, Eva C., Schulze, Thomas G., Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N., Simon, Eric S., Singh, Balwinder, Smedley, Damian, Smith, Cynthia L., Smolinsky, Jake T., Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Castano, Jair A.Tenorio, Tesner, Pavel, Thomas, Rhys H., Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E., Vasilevsky, Nicole A., Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S., Wiafe, Addo A., Wiafe, Samuel A., Wiggins, Lisa D., Williams, Andrew E., Wu, Chen, Wyrwoll, Margot J., Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N., Yocum, Anastasia K., Young, Allan H., Yüksel, Zafer, Zandi, Peter P., Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C., Harris, Nomi L., Munoz-Torres, Monica C., Danis, Daniel, Mungall, Christopher J., Köhler, Sebastian, Haendel, Melissa A., Robinson, Peter N.

المصدر: Gargano , M A , Matentzoglu , N , Coleman , B , Addo-Lartey , E B , Anagnostopoulos , A V , Anderton , J , Avillach , P , Bagley , A M , Bakštein , E , Balhoff , J P , Baynam , G , Bello , S M , Berk , M , Bertram , H , Bishop , S , Blau , H , Bodenstein , D F , Botas , P , Boztug , K , Čady , J , Callahan , T J , Cameron , R , Carbon , S ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/53bfc48d-664b-48c8-aa1a-6eff4a812480
https://research.rug.nl/en/publications/53bfc48d-664b-48c8-aa1a-6eff4a812480
https://doi.org/10.1093/nar/gkad1005
https://pure.rug.nl/ws/files/925936582/The_Human_Phenotype_Ontology_in_2024-_phenotypes_around_the_world.pdf
http://www.scopus.com/inward/record.url?scp=85181760537&partnerID=8YFLogxK

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 B. A., de Vries, Esther, DePaulo, J. Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J. M., 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., Gore Moses, Rachel, Green, Ian, Griese, Matthias, Groza, Tudor, Gu, Weihong, Guthrie, Julia, Gyori, Benjamin, Hamosh, Ada, Hanauer, Marc, Hanušová, Kateřina, He, Yongqun Oliver, Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius O. B., 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, Nierenberg, Andrew A., Novák Čajbiková, Nikola, Nurnberger, John I., Jr., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Perez de Nanclares, Guiomar, Peters, Amy, Putman, Tim, Rapp, Christina K., Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M., Roy, Suzy, Sanders, Stephan J., Schuetz, Catharina, Schulte, Eva C., Schulze, Thomas G., Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N., Simon, Eric S., Singh, Balwinder, Smedley, Damian, Smith, Cynthia L., Smolinsky, Jake T., Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Tenorio Castano, Jair A., Tesner, Pavel, Thomas, Rhys H., Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E., Vasilevsky, Nicole A., Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S., Wiafe, Addo A., Wiafe, Samuel A., Wiggins, Lisa D., Williams, Andrew E., Wu, Chen, Wyrwoll, Margot J., Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N., Yocum, Anastasia K., Young, Allan H., Yüksel, Zafer, Zandi, Peter P., Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C., Harris, Nomi L., Munoz-Torres, Monica C., Danis, Daniel, Mungall, Christopher J., Köhler, Sebastian, Haendel, Melissa A., Robinson, Peter N.

المساهمون: Psychiatry, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Algorithms, Biological ontologies, Genomics, Phenotype, Rare diseases

وصف الملف: application/pdf

Relation: Nucleic Acids Research; Gargano MA, Matentzoglu N, Coleman B, et al. The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Res. 2024;52(D1):D1333-D1346. doi:10.1093/nar/gkad1005; https://hdl.handle.net/1805/40981

الاتاحة: https://hdl.handle.net/1805/40981

المؤلفون: DiStefano, Marina, Alkuraya, Fowzan, Amberger, Joanna, Austin-Tse, Christina, Austine, Ola, Balzotti, Marie, Berg, Jonathan, Bruford, Elspeth, Byrne, Alicia, Cibrian-Uhalte, Elena, Coffey, Alison, Firth, Helen, Hamosh, Ada, Hunt, Sarah, Klein, Teri, Kurtz, Catherine, Leigh, Sarah, Leong, Ivone, Lucano, Caterina, Maddirevula, Sateesh, O'Neill, Audrey, Puzriakova, Arina, Rath, Ana, Roberts, Angharad, Radtke, Kelly, Ramos, Erin, Riggs, Erin, Rodwell, Charlotte, Taylor, Julie, Sangkuhl, Katrin, Snow, Catherine, Stark, Zornitza, Ware, James, Wayburn, Bess, Weller, Phillip, Rehm, Heidi

المصدر: Genetics in Medicine Open ; volume 2, page 101476 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101476
https://api.elsevier.com/content/article/PII:S2949774424006228?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424006228?httpAccept=text/plain

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 B A, de Vries, Esther, DePaulo, J Raymond, Derfalvi, Beata, Dhombres, Ferdinand, Diaz-Byrd, Claudia, Dingemans, Alexander J M, 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 (Oliver), Hegde, Harshad, Helbig, Ingo, Holasová, Kateřina, Hoyt, Charles Tapley, Huang, Shangzhi, Hurwitz, Eric, Jacobsen, Julius O B, 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, Nierenberg, Andrew A, Čajbiková, Nikola Novák, Nurnberger, John I, Jr., Ogishima, Soichi, Olson, Daniel, Ortiz, Abigail, Pachajoa, Harry, Perez de Nanclares, Guiomar, Peters, Amy, Putman, Tim, Rapp, Christina K, Rath, Ana, Reese, Justin, Rekerle, Lauren, Roberts, Angharad M, Roy, Suzy, Sanders, Stephan J, Schuetz, Catharina, Schulte, Eva C, Schulze, Thomas G, Schwarz, Martin, Scott, Katie, Seelow, Dominik, Seitz, Berthold, Shen, Yiping, Similuk, Morgan N, Simon, Eric S, Singh, Balwinder, Smedley, Damian, Smith, Cynthia L, Smolinsky, Jake T, Sperry, Sarah, Stafford, Elizabeth, Stefancsik, Ray, Steinhaus, Robin, Strawbridge, Rebecca, Sundaramurthi, Jagadish Chandrabose, Talapova, Polina, Tenorio Castano, Jair A, Tesner, Pavel, Thomas, Rhys H, Thurm, Audrey, Turnovec, Marek, van Gijn, Marielle E, Vasilevsky, Nicole A, Vlčková, Markéta, Walden, Anita, Wang, Kai, Wapner, Ron, Ware, James S, Wiafe, Addo A, Wiafe, Samuel A, Wiggins, Lisa D, Williams, Andrew E, Wu, Chen, Wyrwoll, Margot J, Xiong, Hui, Yalin, Nefize, Yamamoto, Yasunori, Yatham, Lakshmi N, Yocum, Anastasia K, Young, Allan H, Yüksel, Zafer, Zandi, Peter P, Zankl, Andreas, Zarante, Ignacio, Zvolský, Miroslav, Toro, Sabrina, Carmody, Leigh C, Harris, Nomi L, Munoz-Torres, Monica C, Danis, Daniel, Mungall, Christopher J, Köhler, Sebastian, Haendel, Melissa A, Robinson, Peter N

وصف الملف: text/xml; application/zip; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/378797

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/378797

المؤلفون: Mazzucato, Monica, Pozza, Laura Visonà Dalla, Facchin, Paola, Angin, Cèline, Agius, Francis, Cavero-Carbonell, Clara, Corrochano, Virginia, Hanusova, Katerina, Kirch, Kurt, Lambert, Deborah, Lucano, Caterina, Maiella, Sylvie, Panzaru, Monica, Rusu, Cristina, Weber, Stefanie, Zurriaga, Oscar, Zvolsky, Miroslav, Rath, Ana

المصدر: http://lobid.org/resources/990144694490206441#!, 18(1):267.

مصطلحات موضوعية: Epidemiology, Coding, Public health, Orphanet, Diagnoses, ICD-10, ORPHAcodes, Rare diseases

Relation: https://repository.publisso.de/resource/frl:6472868; https://doi.org/10.1186/s13023-023-02864-6

الاتاحة: https://repository.publisso.de/resource/frl:6472868
https://doi.org/10.1186/s13023-023-02864-6

المؤلفون: Lagorce, David, Lebreton, Emeline, Matalonga, Leslie, Hongnat, Oscar, Chahdil, Maroua, Piscia, Davide, Paramonov, Ida, Ellwanger, Kornelia, Köhler, Sebastian, Robinson, Peter N., Graessner, Holm, Beltran, Sergi, Lucano, Caterina, Hanauer, Marc, Rath, Ana

مصطلحات موضوعية: Genome informatics, Spinocerebellar ataxia

وصف الملف: application/pdf

Relation: Eur J Hum Genet. 2023 Nov 6; info:eu-repo/grantAgreement/EC/H2020/779257; info:eu-repo/grantAgreement/EC/FP7/305444; http://hdl.handle.net/10230/58995

الاتاحة: http://hdl.handle.net/10230/58995
https://doi.org/10.1038/s41431-023-01486-7

المؤلفون: Tucci, Francesca, Calbi, Valeria, Barzaghi, Federica, Migliavacca, Maddalena, Ferrua, Francesca, Bernardo, Maria Ester, Canarutto, Daniele, Consiglieri, Giulia, Recupero, Salvatore, Calzatini, Francesco, Gabaldo, Michela, Lucano, Caterina, Casiraghi, Miriam, Darin, Silvia, Dionisio, Francesca, Marktel, Sarah, Cestone, Enza, Finazzi, Renato, Mieli‐Vergani, Giorgina, Boeri, Enzo, Appleby, Jonathan, Abd Elaziz, Dalia, Ciceri, Fabio, Aiuti, Alessandro, Cicalese, Maria Pia

المصدر: Hepatology ; volume 68, issue 6, page 2434-2437 ; ISSN 0270-9139 1527-3350

الاتاحة: http://dx.doi.org/10.1002/hep.30160
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhep.30160
https://journals.lww.com/01515467-201812000-00042

المؤلفون: 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

المصدر: European Journal of Human Genetics: EJHG; February 2024, Vol. 32 Issue: 2 p182-189, 8p

المؤلفون: Pozzi, Benedetta, Amodio, Stefania, Lucano, Caterina, Sciullo, Anna, Ronzoni, Simona, Castelletti, Daniela, Adler, Thure, Treise, Irina, Betsholtz, Ingrid Holmberg, Rathkolb, Birgit, Busch, Dirk H., Wolf, Eckhard, Fuchs, Helmut, Gailus-Durner, Valérie, de Angelis, Martin Hrabě, Betsholtz, Christer, Casola, Stefano, Di Fiore, Pier Paolo, Offenhäuser, Nina

المساهمون: Zirlik, Andreas

المصدر: PLoS ONE ; volume 8, issue 5 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/annotation/9c1c760a-8477-499d-a194-5ed87ffa6c6a

المؤلفون: Pozzi, Benedetta, Amodio, Stefania, Lucano, Caterina, Sciullo, Anna, Ronzoni, Simona, Castelletti, Daniela, Adler, Thure, Treise, Irina, Betsholtz, Ingrid Holmberg, Rathkolb, Birgit, Busch, Dirk H., Wolf, Eckhard, Fuchs, Helmut, Gailus-Durner, Valérie, de Angelis, Martin Hrabě, Betsholtz, Christer, Casola, Stefano, Di Fiore, Pier Paolo, Offenhäuser, Nina

المساهمون: Zirlik, Andreas

المصدر: PLoS ONE ; volume 7, issue 11, page e50818 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0050818
http://dx.plos.org/10.1371/journal.pone.0050818

المؤلفون: Amin, Mutaz, Serriere-Lanneau, Valerie, Olry, Annie, Zweier, Christiane, Chevrollier, Nicolas, Hugon, Anne, Popp, Bernt, Ali, Houda, Lucano, Caterina, Rath, Ana, Verloes, Alain

الاتاحة: http://dx.doi.org/10.2139/ssrn.4477149

المؤلفون: Vermezovic, Jelena, Adamowicz, Marek, Santarpia, Libero, Rustighi, Alessandra, Forcato, Mattia, Lucano, Caterina, Massimiliano, Lucia, Costanzo, Vincenzo, Bicciato, Silvio, Del Sal, Giannino, D'ADDA DI FAGAGNA, FABRIZIO

المساهمون: Vermezovic, Jelena, Adamowicz, Marek, Santarpia, Libero, Rustighi, Alessandra, Forcato, Mattia, Lucano, Caterina, Massimiliano, Lucia, Costanzo, Vincenzo, Bicciato, Silvio, Del Sal, Giannino, D'ADDA DI FAGAGNA, Fabrizio

مصطلحات موضوعية: Animal, Apoptosi, Ataxia Telangiectasia Mutated Protein, Binding Site, Caenorhabditis elegan, Cell Line, Tumor, DNA Damage, DNA Repair, DNA-Binding Protein, Enzyme Activation, HEK293 Cell, HeLa Cell, Human, Multiprotein Complexe, Neoplasm, Protein Binding, Protein Structure, Tertiary, Receptor, Notch1, Signal Transduction, Transcription, Genetic, Xenopus laevis

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/25895060; info:eu-repo/semantics/altIdentifier/wos/WOS:000354094700016; volume:22; issue:5; firstpage:417; lastpage:424; numberofpages:8; journal:NATURE STRUCTURAL & MOLECULAR BIOLOGY; http://hdl.handle.net/11368/2944294; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84929291885; https://www.nature.com/articles/nsmb.3013

الاتاحة: http://hdl.handle.net/11368/2944294
https://doi.org/10.1038/nsmb.3013
https://www.nature.com/articles/nsmb.3013

المؤلفون: LUCANO, CATERINA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8ec1fce5824f9f933f572e52f58b3ea7

المؤلفون: Francesca Ferrua, Maria Ester Bernardo, Maria Pia Cicalese, Francesca Tucci, Federica Barzaghi, Giulia Consiglieri, Jonathan Appleby, Daniele Canarutto, Francesco Calzatini, Michela Gabaldo, Silvia Darin, Francesca Dionisio, Caterina Lucano, Sarah Marktel, Maddalena Migliavacca, Enza Cestone, Miriam Casiraghi, Renato Finazzi, Giorgina Mieli-Vergani, Dalia Abd Elaziz, Salvatore Recupero, Valeria Calbi, Alessandro Aiuti, Fabio Ciceri, Enzo Boeri

المساهمون: Tucci, Francesca, Calbi, Valeria, Barzaghi, Federica, Migliavacca, Maddalena, Ferrua, Francesca, Bernardo, Maria Ester, Canarutto, Daniele, Consiglieri, Giulia, Recupero, Salvatore, Calzatini, Francesco, Gabaldo, Michela, Lucano, Caterina, Casiraghi, Miriam, Darin, Silvia, Dionisio, Francesca, Marktel, Sarah, Cestone, Enza, Finazzi, Renato, Mieli-Vergani, Giorgina, Boeri, Enzo, Appleby, Jonathan, Elaziz, Dalia Abd, Ciceri, Fabio, Aiuti, Alessandro, Cicalese, Maria Pia

المصدر: Hepatology (Baltimore, Md.)

مصطلحات موضوعية: 0301 basic medicine, Male, Strimvelis, Adenosine Deaminase, Genetic enhancement, Antiviral Agents, Clinical Observations in Hepatology, 03 medical and health sciences, 0302 clinical medicine, Agammaglobulinemia, medicine, Humans, Severe combined immunodeficiency, Fluorenes, Hepatology, business.industry, Infant, Genetic Therapy, medicine.disease, Virology, Hepatitis C, Adenosine deaminase deficiency, 030104 developmental biology, LEDIPASVIR/SOFOSBUVIR, 030211 gastroenterology & hepatology, Benzimidazoles, Severe Combined Immunodeficiency, Sofosbuvir, business, Uridine Monophosphate

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c1d618021d0966c3092bcae2159b70c

المؤلفون: Caterina Lucano, Vincenzo Costanzo, Mattia Forcato, Alessandra Rustighi, Fabrizio d'Adda di Fagagna, Silvio Bicciato, Jelena Vermezovic, Marek Adamowicz, Libero Santarpia, Lucia Massimiliano, Giannino Del Sal

المساهمون: Vermezovic, Jelena, Adamowicz, Marek, Santarpia, Libero, Rustighi, Alessandra, Forcato, Mattia, Lucano, Caterina, Massimiliano, Lucia, Costanzo, Vincenzo, Bicciato, Silvio, Del Sal, Giannino, D'ADDA DI FAGAGNA, Fabrizio

المصدر: Nature structuralmolecular biology. 22(5)

مصطلحات موضوعية: Animals, Apoptosis, Ataxia Telangiectasia Mutated Proteins, Binding Sites, Caenorhabditis elegans, Cell Line, Tumor, DNA Damage, DNA Repair, DNA-Binding Proteins, Enzyme Activation, HEK293 Cells, HeLa Cells, Humans, Multiprotein Complexes, Neoplasms, Protein Binding, Protein Structure, Tertiary, Receptor, Notch1, Signal Transduction, Transcription, Genetic, Xenopus laevis, Xenopus, HeLa Cell, Ataxia Telangiectasia Mutated Protein, HEK293 Cell, Structural Biology, Molecular Biology, Medicine (all), hemic and lymphatic diseases, Caenorhabditis elegan, Tumor, biology, Cell biology, embryonic structures, cardiovascular system, biological phenomena, cell phenomena, and immunity, Signal transduction, Transcription, Receptor, Human, Protein Structure, DNA damage, DNA repair, DNA-Binding Protein, Notch signaling pathway, Cell Line, Genetic, Notch1, Animal, HEK 293 cells, Binding Site, Apoptosi, biology.organism_classification, Multiprotein Complexe, Neoplasm, sense organs, Tertiary

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::421d1f91574f02b4be19fe4a09510557
https://pubmed.ncbi.nlm.nih.gov/25895060