المؤلفون: Jain, Shantanu, Bakolitsa, Constantina, Brenner, Steven E., Radivojac, Predrag, Moult, John, Repo, Susanna, Hoskins, Roger A., Andreoletti, Gaia, Barsky, Daniel, Chellapan, Ajithavalli, Chu, Hoyin, Dabbiru, Navya, Kollipara, Naveen K., Ly, Melissa, Neumann, Andrew J., Pal, Lipika R., Odell, Eric, Pandey, Gaurav, Peters-Petrulewicz, Robin C., Srinivasan, Rajgopal, Yee, Stephen F., Yeleswarapu, Sri Jyothsna, Zuhl, Maya, Adebali, Ogun, Patra, Ayoti, Beer, Michael A., Hosur, Raghavendra, Peng, Jian, Bernard, Brady M., Berry, Michael, Dong, Shengcheng, Boyle, Alan P., Adhikari, Aashish, Chen, Jingqi, Hu, Zhiqiang, Wang, Robert, Wang, Yaqiong, Miller, Maximilian, Wang, Yanran, Bromberg, Yana, Turina, Paola, Capriotti, Emidio, Han, James J., Ozturk, Kivilcim, Carter, Hannah, Babbi, Giulia, Bovo, Samuele, di Lena, Pietro, Martelli, Pier Luigi, Savojardo, Castrense, Casadio, Rita, Cline, Melissa S., de Baets, Greet, Bonache, Sandra, Díez, Orland, Gutiérrez-Enríquez, Sara, Fernández, Alejandro, Montalban, Gemma, Ootes, Lars, Özkan, Selen, Padilla, Natàlia, Riera, Casandra, de la Cruz, Xavier, Diekhans, Mark, Huwe, Peter J., Wei, Qiong, Xu, Qifang, Dunbrack, Roland L., Gotea, Valer, Elnitski, Laura, Margolin, Gennady, Fariselli, Piero, Kulakovskiy, Ivan V., Makeev, Vsevolod J., Penzar, Dmitry D., Vorontsov, Ilya E., Favorov, Alexander V., Forman, Julia R., Hasenahuer, Marcia, Fornasari, Maria S., Parisi, Gustavo, Avsec, Ziga, Çelik, Muhammed H., Nguyen, Thi Yen Duong, Gagneur, Julien, Shi, Fang-Yuan, Edwards, Matthew D., Guo, Yuchun, Tian, Kevin, Zeng, Haoyang, Gifford, David K., Göke, Jonathan, Zaucha, Jan, Gough, Julian, Ritchie, Graham R. S., Frankish, Adam, Mudge, Jonathan M., Harrow, Jennifer, Young, Erin L., Yu, Yao, Huff, Chad D., Murakami, Katsuhiko, Nagai, Yoko, Imanishi, Tadashi, Mungall, Christopher J., Jacobsen, Julius O. B., Kim, Dongsup, Jeong, Chan-Seok, Jones, David T., Li, Mulin Jun, Guthrie, Violeta Beleva, Bhattacharya, Rohit, Chen, Yun-Ching, Douville, Christopher, Fan, Jean, Kim, Dewey, Masica, David, Niknafs, Noushin, Sengupta, Sohini, Tokheim, Collin, Turner, Tychele N., Yeo, Hui Ting Grace, Karchin, Rachel, Shin, Sunyoung, Welch, Rene, Keles, Sunduz, Li, Yue, Kellis, Manolis, Corbi-Verge, Carles, Strokach, Alexey V., Kim, Philip M., Klein, Teri E., Mohan, Rahul, Sinnott-Armstrong, Nicholas A., Wainberg, Michael, Kundaje, Anshul, Gonzaludo, Nina, Mak, Angel C. Y., Chhibber, Aparna, Lam, Hugo Y. K., Dahary, Dvir, Fishilevich, Simon, Lancet, Doron, Lee, Insuk, Bachman, Benjamin, Katsonis, Panagiotis, Lua, Rhonald C., Wilson, Stephen J., Lichtarge, Olivier, Bhat, Rajendra R., Sundaram, Laksshman, Viswanath, Vivek, Bellazzi, Riccardo, Nicora, Giovanna, Rizzo, Ettore, Limongelli, Ivan, Mezlini, Aziz M., Chang, Ray, Kim, Serra, Lai, Carmen, O’Connor, Robert, Topper, Scott, van den Akker, Jeroen, Zhou, Alicia Y., Zimmer, Anjali D., Mishne, Gilad, Bergquist, Timothy R., Breese, Marcus R., Guerrero, Rafael F., Jiang, Yuxiang, Kiga, Nikki, Li, Biao, Mort, Matthew, Pagel, Kymberleigh A., Pejaver, Vikas, Stamboulian, Moses H., Thusberg, Janita, Mooney, Sean D., Teerakulkittipong, Nuttinee, Cao, Chen, Kundu, Kunal, Yin, Yizhou, Yu, Chen-Hsin, Kleyman, Michael, Lin, Chiao-Feng, Stackpole, Mary, Mount, Stephen M., Eraslan, G. kcen, Mueller, Nikola S., Naito, Tatsuhiko, Rao, Aliz R., Azaria, Johnathan R., Brodie, Aharon, Ofran, Yanay, Garg, Aditi, Pal, Debnath, Hawkins-Hooker, Alex, Kenlay, Henry, Reid, John, Mucaki, Eliseos J., Rogan, Peter K., Schwarz, Jana M., Searls, David B., Lee, Gyu Rie, Seok, Chaok, Krämer, Andreas, Shah, Sohela, Huang, ChengLai V., Kirsch, Jack F., Shatsky, Maxim, Cao, Yue, Chen, Haoran, Karimi, Mostafa, Moronfoye, Oluwaseyi, Sun, Yuanfei, Shen, Yang, Shigeta, Ron, Ford, Colby T., Nodzak, Conor, Uppal, Aneeta, Shi, Xinghua, Joseph, Thomas, Kotte, Sujatha, Rana, Sadhna, Rao, Aditya, Saipradeep, V. G., Sivadasan, Naveen, Sunderam, Uma, Stanke, Mario, Su, Andrew, Adzhubey, Ivan, Jordan, Daniel M., Sunyaev, Shamil, Rousseau, Frederic, Schymkowitz, Joost, van Durme, Joost, Tavtigian, Sean V., Carraro, Marco, Giollo, Manuel, Tosatto, Silvio C. E., Adato, Orit, Carmel, Liran, Cohen, Noa E., Fenesh, Tzila, Holtzer, Tamar, Juven-Gershon, Tamar, Unger, Ron, Niroula, Abhishek, Olatubosun, Ayodeji, Väliaho, Jouni, Yang, Yang, Vihinen, Mauno, Wahl, Mary E., Chang, Billy, Chong, Ka Chun, Hu, Inchi, Sun, Rui, Wu, William Ka Kei, Xia, Xiaoxuan, Zee, Benny C., Wang, Maggie H., Wang, Meng, Wu, Chunlei, Lu, Yutong, Chen, Ken, Yang, Yuedong, Yates, Christopher M., Kreimer, Anat, Yan, Zhongxia, Yosef, Nir, Zhao, Huying, Wei, Zhipeng, Yao, Zhaomin, Zhou, Fengfeng, Folkman, Lukas, Zhou, Yaoqi, Daneshjou, Roxana, Altman, Russ B., Inoue, Fumitaka, Ahituv, Nadav, Arkin, Adam P., Lovisa, Federica, Bonvini, Paolo, Bowdin, Sarah, Gianni, Stefano, Mantuano, Elide, Minicozzi, Velia, Novak, Leonore, Pasquo, Alessandra, Pastore, Annalisa, Petrosino, Maria, Puglisi, Rita, Toto, Angelo, Veneziano, Liana, Chiaraluce, Roberta, Ball, Mad P., Bobe, Jason R., Church, George M., Consalvi, Valerio, Cooper, David N., Buckley, Bethany A., Sheridan, Molly B., Cutting, Garry R., Scaini, Maria Chiara, Cygan, Kamil J., Fredericks, Alger M., Glidden, David T., Neil, Christopher, Rhine, Christy L., Fairbrother, William G., Alontaga, Aileen Y., Fenton, Aron W., Matreyek, Kenneth A., Starita, Lea M., Fowler, Douglas M., Löscher, Britt-Sabina, Franke, Andre, Adamson, Scott I., Graveley, Brenton R., Gray, Joe W., Malloy, Mary J., Kane, John P., Kousi, Maria, Katsanis, Nicholas, Schubach, Max, Kircher, Martin, Tang, Paul L. F., Kwok, Pui-Yan, Lathrop, Richard H., Clark, Wyatt T., Yu, Guoying K., LeBowitz, Jonathan H., Benedicenti, Francesco, Bettella, Elisa, Bigoni, Stefania, Cesca, Federica, Mammi, Isabella, Marino-Buslje, Cristina, Milani, Donatella, Peron, Angela, Polli, Roberta, Sartori, Stefano, Stanzial, Franco, Toldo, Irene, Turolla, Licia, Aspromonte, Maria C., Bellini, Mariagrazia, Leonardi, Emanuela, Liu, Xiaoming, Marshall, Christian, McCombie, W. Richard, Elefanti, Lisa, Menin, Chiara, Meyn, M. Stephen, Murgia, Alessandra, Nadeau, Kari C. Y., Neuhausen, Susan L., Nussbaum, Robert L., Pirooznia, Mehdi, Potash, James B., Dimster-Denk, Dago F., Rine, Jasper D., Sanford, Jeremy R., Snyder, Michael, Cote, Atina G., Sun, Song, Verby, Marta W., Weile, Jochen, Roth, Frederick P., Tewhey, Ryan, Sabeti, Pardis C., Campagna, Joan, Refaat, Marwan M., Wojciak, Julianne, Grubb, Soren, Schmitt, Nicole, Shendure, Jay, Spurdle, Amanda B., Stavropoulos, Dimitri J., Walton, Nephi A., Zandi, Peter P., Ziv, Elad, Burke, Wylie, Chen, Flavia, Carr, Lawrence R., Martinez, Selena, Paik, Jodi, Harris-Wai, Julie, Yarborough, Mark, Fullerton, Stephanie M., Koenig, Barbara A., McInnes, Gregory, Shigaki, Dustin, Chandonia, John-Marc, Furutsuki, Mabel, Kasak, Laura, Yu, Changhua, Chen, Rui, Friedberg, Iddo, Getz, Gad A., Cong, Qian, Kinch, Lisa N., Zhang, Jing, Grishin, Nick V., Voskanian, Alin, Kann, Maricel G., Tran, Elizabeth, Ioannidis, Nilah M., Hunter, Jesse M., Udani, Rupa, Cai, Binghuang, Morgan, Alexander A., Sokolov, Artem, Stuart, Joshua M., Minervini, Giovanni, Monzon, Alexander M., Batzoglou, Serafim, Butte, Atul J., Greenblatt, Marc S., Hart, Reece K., Hernandez, Ryan, Hubbard, Tim J. P., Kahn, Scott, O’Donnell-Luria, Anne, Ng, Pauline C., Shon, John, Veltman, Joris

المصدر: Jain , S , Bakolitsa , C , Brenner , S E , Radivojac , P , Moult , J , Repo , S , Hoskins , R A , Andreoletti , G , Barsky , D , Chellapan , A , Chu , H , Dabbiru , N , Kollipara , N K , Ly , M , Neumann , A J , Pal , L R , Odell , E , Pandey , G , Peters-Petrulewicz , R C , Srinivasan , R , Yee , S F , Yeleswarapu , S J , Zuhl , M ....

الاتاحة: https://research.vumc.nl/en/publications/a936c5c2-8176-4e3d-a48d-5db276714a29
https://doi.org/10.1186/s13059-023-03113-6
http://www.scopus.com/inward/record.url?scp=85187866396&partnerID=8YFLogxK

المؤلفون: Stenton, Sarah L., O’Leary, Melanie C., Lemire, Gabrielle, VanNoy, Grace E., DiTroia, Stephanie, Ganesh, Vijay S., Groopman, Emily, O’Heir, Emily, Mangilog, Brian, Osei-Owusu, Ikeoluwa, Pais, Lynn S., Serrano, Jillian, Singer-Berk, Moriel, Weisburd, Ben, Wilson, Michael W., Austin-Tse, Christina, Abdelhakim, Marwa, Althagafi, Azza, Babbi, Giulia, Bellazzi, Riccardo, Bovo, Samuele, Carta, Maria Giulia, Casadio, Rita, Coenen, Pieter-Jan, De Paoli, Federica, Floris, Matteo, Gajapathy, Manavalan, Hoehndorf, Robert, Jacobsen, Julius O. B., Joseph, Thomas, Kamandula, Akash, Katsonis, Panagiotis, Kint, Cyrielle, Lichtarge, Olivier, Limongelli, Ivan, Lu, Yulan, Magni, Paolo, Mamidi, Tarun Karthik Kumar, Martelli, Pier Luigi, Mulargia, Marta, Nicora, Giovanna, Nykamp, Keith, Pejaver, Vikas, Peng, Yisu, Pham, Thi Hong Cam, Podda, Maurizio S., Rao, Aditya, Rizzo, Ettore, Saipradeep, Vangala G., Savojardo, Castrense

المساهمون: Manton Center for Orphan Disease Research, Fonds de recherche en santé du Quebec, Mass General Brigham Training Program in Precision and Genomic Medicine, King Abdullah University of Science and Technology (KAUST) Office of Sponsored Research, National Institute of Child Health and Human Development, National Human Genome Research Institute, Chan Zuckerberg Initiative

المصدر: Human Genomics ; volume 18, issue 1 ; ISSN 1479-7364

الاتاحة: http://dx.doi.org/10.1186/s40246-024-00604-w
https://link.springer.com/content/pdf/10.1186/s40246-024-00604-w.pdf
https://link.springer.com/article/10.1186/s40246-024-00604-w/fulltext.html

المؤلفون: De Paoli, Federica, Berardelli, Silvia, Limongelli, Ivan, Rizzo, Ettore, Zucca, Susanna

المساهمون: Wren, Jonathan, European Union

المصدر: Bioinformatics ; volume 40, issue 4 ; ISSN 1367-4811

الاتاحة: http://dx.doi.org/10.1093/bioinformatics/btae183
https://academic.oup.com/bioinformatics/advance-article-pdf/doi/10.1093/bioinformatics/btae183/57173692/btae183.pdf
https://academic.oup.com/bioinformatics/article-pdf/40/4/btae183/57346521/btae183.pdf

المؤلفون: Stenton, Sarah L., O'Leary, Melanie, Lemire, Gabrielle, VanNoy, Grace E., DiTroia, Stephanie, Ganesh, Vijay S., Groopman, Emily, O'Heir, Emily, Mangilog, Brian, Osei-Owusu, Ikeoluwa, Pais, Lynn S., Serrano, Jillian, Singer-Berk, Moriel, Weisburd, Ben, Wilson, Michael, Austin-Tse, Christina, Abdelhakim, Marwa, Althagafi, Azza Th., Babbi, Giulia, Bellazzi, Riccardo, Bovo, Samuele, Carta, Maria Giulia, Casadio, Rita, Coenen, Pieter-Jan, De Paoli, Federica, Floris, Matteo, Gajapathy, Manavalan, Hoehndorf, Robert, Jacobsen, Julius O.B., Joseph, Thomas, Kamandula, Akash, Katsonis, Panagiotis, Kint, Cyrielle, Lichtarge, Olivier, Limongelli, Ivan, Lu, Yulan, Magni, Paolo, Mamidi, Tarun Karthik Kumar, Martelli, Pier Luigi, Mulargia, Marta, Nicora, Giovanna, Nykamp, Keith, Pejaver, Vikas, Peng, Yisu, Pham, Thi Hong Cam, Podda, Maurizio S., Rao, Aditya, Rizzo, Ettore, Saipradeep, Vangala G., Savojardo, Castrense, Schols, Peter, Shen, Yang, Sivadasan, Naveen, Smedley, Damian, Soru, Dorian, Srinivasan, Rajgopal, Sun, Yuanfei, Sunderam, Uma, Tan, Wuwei, Tiwari, Naina, Wang, Xiao, Wang, Yaqiong, Williams, Amanda, Worthey, Elizabeth A., Yin, Rujie, You, Yuning, Zeiberg, Daniel, Zucca, Susanna, Bakolitsa, Constantina, Brenner, Steven E., Fullerton, Stephanie M., Radivojac, Predrag, Rehm, Heidi L., O'Donnell-Luria, Anne�

المساهمون: Computer, Electrical and Mathematical Science and Engineering (CEMSE) Division, Computer Science Program, Computational Bioscience Research Center (CBRC), Computer Science Department, College of Computers and Information Technology, Taif University, Taif, Saudi Arabia

وصف الملف: application/pdf; application/zip

Relation: Stenton, S. L., O’Leary, M., Lemire, G., VanNoy, G. E., DiTroia, S., Ganesh, V. S., Groopman, E., O’Heir, E., Mangilog, B., Osei-Owusu, I., Pais, L. S., Serrano, J., Singer-Berk, M., Weisburd, B., Wilson, M., Austin-Tse, C., Abdelhakim, M., Althagafi, A., Babbi, G., … O’Donnell-Luria, A. (2023). Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project. https://doi.org/10.1101/2023.08.02.23293212; http://hdl.handle.net/10754/693499

الاتاحة: http://hdl.handle.net/10754/693499
https://doi.org/10.1101/2023.08.02.23293212

المؤلفون: Shah, Ravi A., Chahal, C. Anwar A., Ranjha, Shaheryar, Dabbagh, Ghaith Sharaf, Asatryan, Babken, Limongelli, Ivan, Khanji, Mohammed, Ricci, Fabrizio, De Paoli, Federica, Zucca, Susanna, Tristani-Firouzi, Martin, St. Louis, Erik K., So, Elson L., Somers, Virend K.

المساهمون: Shah, Ravi A., Chahal, C. Anwar A., Ranjha, Shaheryar, Dabbagh, Ghaith Sharaf, Asatryan, Babken, Limongelli, Ivan, Khanji, Mohammed, Ricci, Fabrizio, De Paoli, Federica, Zucca, Susanna, Tristani-Firouzi, Martin, St. Louis, Erik K., So, Elson L., Somers, Virend K.

مصطلحات موضوعية: Cardiovascular disease, Epidemiology, Epilepsy, Epileptic Heart, Sudden Death, UK Biobank

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/38013064; info:eu-repo/semantics/altIdentifier/wos/WOS:001228232400001; volume:40; issue:4; firstpage:688; lastpage:695; numberofpages:8; journal:CANADIAN JOURNAL OF CARDIOLOGY; https://hdl.handle.net/11564/823645; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85188008684; https://onlinecjc.ca/article/S0828-282X(23)01948-7/abstract

الاتاحة: https://hdl.handle.net/11564/823645
https://doi.org/10.1016/j.cjca.2023.11.021
https://onlinecjc.ca/article/S0828-282X(23)01948-7/abstract

المؤلفون: Nicora, Giovanna, Zucca, Susanna, Limongelli, Ivan, Bellazzi, Riccardo, Magni, Paolo

المساهمون: Regione Lombardia

المصدر: Scientific Reports ; volume 12, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-022-06547-3
https://www.nature.com/articles/s41598-022-06547-3.pdf
https://www.nature.com/articles/s41598-022-06547-3

المؤلفون: Paoli, Federica De, Berardelli, Silvia, Limongelli, Ivan, Rizzo, Ettore, Zucca, Susanna

المصدر: Bioinformatics; Apr2024, Vol. 40 Issue 4, p1-4, 4p

مصطلحات موضوعية: GENERATIVE artificial intelligence, SCIENTIFIC literature, PROFESSIONAL ethics, GENETIC variation, RESEARCH personnel, MICROBIAL ecology

المؤلفون: Dagliati, Arianna, Tibollo, Valentina, Sacchi, Lucia, Malovini, Alberto, Limongelli, Ivan, Gabetta, Matteo, Napolitano, Carlo, Mazzanti, Andrea, De Cata, Pasquale, Chiovato, Luca, Priori, Silvia, Bellazzi, Riccardo

المساهمون: Seventh Framework Programme

المصدر: Frontiers in Digital Humanities ; volume 5 ; ISSN 2297-2668

الاتاحة: http://dx.doi.org/10.3389/fdigh.2018.00008
http://journal.frontiersin.org/article/10.3389/fdigh.2018.00008/full

المؤلفون: Della Porta, Matteo G, Gallì, Anna, Bacigalupo, Andrea, Zibellini, Silvia, Bernardi, Massimo, Rizzo, Ettore, Allione, Bernardino, van Lint, Maria Teresa, Pioltelli, Pietro, Marenco, Paola, Bosi, Alberto, Voso, Maria Teresa, Sica, Simona, Cuzzola, Mariella, Angelucci, Emanuele, Rossi, Marianna, Ubezio, Marta, Malovini, Alberto, Limongelli, Ivan, Ferretti, Virginia V, Spinelli, Orietta, Tresoldi, Cristina, Pozzi, Sarah, Luchetti, Silvia, Pezzetti, Laura, Catricalà, Silvia, Milanesi, Chiara, Riva, Alberto, Ciceri, Fabio, Bonifazi, Francesca, Bellazzi, Riccardo, Papaemmanuil, Elli, Santoro, Armando, Alessandrino, Emilio P, Rambaldi, Alessandro, Cazzola, Mario, BRUNO, Benedetto

المساهمون: Della Porta, Matteo G, Gallì, Anna, Bacigalupo, Andrea, Zibellini, Silvia, Bernardi, Massimo, Rizzo, Ettore, Allione, Bernardino, van Lint, Maria Teresa, Pioltelli, Pietro, Marenco, Paola, Bosi, Alberto, Voso, Maria Teresa, Sica, Simona, Cuzzola, Mariella, Angelucci, Emanuele, Rossi, Marianna, Ubezio, Marta, Malovini, Alberto, Limongelli, Ivan, Ferretti, Virginia V, Spinelli, Orietta, Tresoldi, Cristina, Pozzi, Sarah, Luchetti, Silvia, Pezzetti, Laura, Catricalà, Silvia, Milanesi, Chiara, Riva, Alberto, Bruno, Benedetto, Ciceri, Fabio, Bonifazi, Francesca, Bellazzi, Riccardo, Papaemmanuil, Elli, Santoro, Armando, Alessandrino, Emilio P, Rambaldi, Alessandro, Cazzola, Mario

Relation: info:eu-repo/semantics/altIdentifier/pmid/27601546; info:eu-repo/semantics/altIdentifier/wos/WOS:000385972600009; firstpage:3627; lastpage:3637; numberofpages:11; journal:JOURNAL OF CLINICAL ONCOLOGY; http://hdl.handle.net/2318/1610857; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84992425369

الاتاحة: http://hdl.handle.net/2318/1610857
https://doi.org/10.1200/JCO.2016.67.3616

المؤلفون: Vetro, Annalisa, Savasta, Salvatore, Russo Raucci, Annalisa, Cerqua, Cristina, Sartori, Geppo, Limongelli, Ivan, Forlino, Antonella, Maruelli, Silvia, Perucca, Paola, Vergani, Debora, Mazzini, Giuliano, Mattevi, Andrea, Stivala, Lucia Anna, Salviati, Leonardo, Zuffardi, Orsetta

المصدر: European Journal of Human Genetics ; volume 25, issue 5, page 646-650 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2017.5
http://www.nature.com/articles/ejhg20175.pdf
http://www.nature.com/articles/ejhg20175

المؤلفون: Marini, Simone, Limongelli, Ivan, Rizzo, Ettore, Malovini, Alberto, Errichiello, Edoardo, Vetro, Annalisa, Da, Tan, Zuffardi, Orsetta, Bellazzi, Riccardo

المساهمون: Russo, Emilio

المصدر: PLOS ONE ; volume 11, issue 12, page e0164940 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0164940
http://dx.plos.org/10.1371/journal.pone.0164940

المؤلفون: Limongelli, Ivan, Marini, Simone, Bellazzi, Riccardo

مصطلحات موضوعية: Sequencing, Variant, Prediction, Exome, Pseudo amino acid composition

Relation: http://www.biomedcentral.com/1471-2105/16/123

الاتاحة: http://www.biomedcentral.com/1471-2105/16/123

المؤلفون: Desbats, Maria Andrea, Vetro, Annalisa, Limongelli, Ivan, Lunardi, Giada, Casarin, Alberto, Doimo, Mara, Spinazzi, Marco, Angelini, Corrado, Cenacchi, Giovanna, Burlina, Alberto, Rodriguez Hernandez, Maria Angeles, Chiandetti, Lino, Clementi, Maurizio, Trevisson, Eva, Navas, Placido, Zuffardi, Orsetta, Salviati, Leonardo

المصدر: European Journal of Human Genetics ; volume 23, issue 9, page 1254-1258 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2014.277
http://www.nature.com/articles/ejhg2014277.pdf
http://www.nature.com/articles/ejhg2014277

المؤلفون: Gabetta, Matteo, Limongelli, Ivan, Rizzo, Ettore, Riva, Alberto, Segagni, Daniele, Bellazzi, Riccardo

المصدر: BMC Bioinformatics ; volume 16, issue 1 ; ISSN 1471-2105

الاتاحة: http://dx.doi.org/10.1186/s12859-015-0861-0
http://link.springer.com/content/pdf/10.1186/s12859-015-0861-0.pdf
http://link.springer.com/article/10.1186/s12859-015-0861-0/fulltext.html

المؤلفون: Marinoni, Andrea, Rizzo, Ettore, Limongelli, Ivan, Gamba, Paolo, Bellazzi, Riccardo

المصدر: Journal of Biomedical Informatics ; volume 53, page 121-127 ; ISSN 1532-0464

الاتاحة: http://dx.doi.org/10.1016/j.jbi.2014.10.001
https://api.elsevier.com/content/article/PII:S1532046414002202?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1532046414002202?httpAccept=text/plain

المؤلفون: Mina, Erika Della, Ciccone, Roberto, Brustia, Francesca, Bayindir, Baran, Limongelli, Ivan, Vetro, Annalisa, Iascone, Maria, Pezzoli, Laura, Bellazzi, Riccardo, Perotti, Gianfranco, De Giorgis, Valentina, Lunghi, Simona, Coppola, Giangennaro, Orcesi, Simona, Merli, Pietro, Savasta, Salvatore, Veggiotti, Pierangelo, Zuffardi, Orsetta

المصدر: European Journal of Human Genetics ; volume 23, issue 3, page 354-362 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2014.92
http://www.nature.com/articles/ejhg201492.pdf
http://www.nature.com/articles/ejhg201492

المؤلفون: Taha, Ibrahim, De Paoli, Federica, Foroni, Selena, Zucca, Susanna, Limongelli, Ivan, Cipolli, Marco, Danesino, Cesare, Ramenghi, Ugo, Minelli, Antonella

المصدر: Genes; Aug2022, Vol. 13 Issue 8, p1314-N.PAG, 12p

مصطلحات موضوعية: PHENOTYPIC plasticity, GENETIC variation, SIBLINGS, SKELETAL dysplasia, HUMAN phenotype, DYSPLASIA, RECESSIVE genes

المؤلفون: Nicora, Giovanna, Marini, Simone, Limongelli, Ivan, Rizzo, Ettore, Montoli, Stefano, Tricomi, Francesca Floriana, Bellazzi, Riccardo

المصدر: Artificial Intelligence in Medicine ; Lecture Notes in Computer Science ; page 42-46 ; ISSN 0302-9743 1611-3349 ; ISBN 9783030216412 9783030216429

الاتاحة: http://dx.doi.org/10.1007/978-3-030-21642-9_7
http://link.springer.com/content/pdf/10.1007/978-3-030-21642-9_7

المؤلفون: Nicora, Giovanna, Limongelli, Ivan, Cova, Riccardo, Della Porta, Matteo Giovanni, Malcovati, Luca, Cazzola, Mario, Bellazzi, Riccardo

المصدر: Artificial Intelligence in Medicine ; Lecture Notes in Computer Science ; page 114-119 ; ISSN 0302-9743 1611-3349 ; ISBN 9783030216412 9783030216429

الاتاحة: http://dx.doi.org/10.1007/978-3-030-21642-9_15
http://link.springer.com/content/pdf/10.1007/978-3-030-21642-9_15

المؤلفون: NICORA, GIOVANNA, Limongelli, Ivan, Gambelli, Patrick, Memmi, Mirella, Malovini, Alberto, Mazzanti, Andrea, Napolitano, Carlo, Priori, Silvia, Bellazzi, Riccardo

المساهمون: Nicora, Giovanna, Limongelli, Ivan, Gambelli, Patrick, Memmi, Mirella, Malovini, Alberto, Mazzanti, Andrea, Napolitano, Carlo, Priori, Silvia, Bellazzi, Riccardo

مصطلحات موضوعية: ACMG, Decision support system, guideline, interpretation, variant

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30298955; info:eu-repo/semantics/altIdentifier/wos/WOS:000451194400008; volume:39; issue:12; firstpage:1835-1846; lastpage:1846; numberofpages:12; journal:HUMAN MUTATION; http://hdl.handle.net/11571/1229466; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85055259528

الاتاحة: http://hdl.handle.net/11571/1229466
https://doi.org/10.1002/humu.23665
https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23665