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1دورية أكاديمية
المؤلفون: Federica Cesca, Elisa Bregant, Borut Peterlin, Maja Zadel, Giorgia Dubsky de Wittenau, Gabriele Siciliano, Roberto Ceravolo, Lucia Petrozzi, Giada Pauletto, Lorenzo Verriello, Paolo Bergonzi, Giuseppe Damante, Giovanni Barillari, Bruno Lucci, Francesco Curcio, Incoronata Renata Lonigro
المصدر: PLoS ONE, Vol 10, Iss 4, p e0125259 (2015)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4411078?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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2دورية أكاديمية
المؤلفون: Shantanu Jain, Constantina Bakolitsa, Steven E Brenner, Predrag Radivojac, John Moult, Susanna Repo, Roger A Hoskins, Gaia Andreoletti, Daniel Barsky, Ajithavalli Chellapan, Hoyin Chu, Navya Dabbiru, Naveen K Kollipara, Melissa Ly, Andrew J Neumann, Lipika R Pal, Eric Odell, Gaurav Pandey, Robin C Peters-Petrulewicz, Rajgopal Srinivasan, Stephen F Yee, Sri Jyothsna Yeleswarapu, Maya Zuhl, Ogun Adebali, Ayoti Patra, Michael A Beer, Raghavendra Hosur, Jian Peng, Brady M Bernard, Michael Berry, Shengcheng Dong, Alan P Boyle, Aashish Adhikari, Jingqi Chen, Zhiqiang Hu, Robert Wang, Yaqiong Wang, Maximilian Miller, Yanran Wang, Yana Bromberg, Paola Turina, Emidio Capriotti, James J Han, Kivilcim Ozturk, Hannah Carter, Giulia Babbi, Samuele Bovo, Pietro Di Lena, Pier Luigi Martelli, Castrense Savojardo, Rita Casadio, Melissa S Cline, Greet De Baets, Sandra Bonache, Orland Díez, Sara Gutiérrez-Enríquez, Alejandro Fernández, Gemma Montalban, Lars Ootes, Selen Özkan, Natàlia Padilla, Casandra Riera, Xavier De la Cruz, Mark Diekhans, Peter J Huwe, Qiong Wei, Qifang Xu, Roland L Dunbrack, Valer Gotea, Laura Elnitski, Gennady Margolin, Piero Fariselli, Ivan V Kulakovskiy, Vsevolod J Makeev, Dmitry D Penzar, Ilya E Vorontsov, Alexander V Favorov, Julia R Forman, Marcia Hasenahuer, Maria S Fornasari, Gustavo Parisi, Ziga Avsec, Muhammed H Çelik, Thi Yen Duong Nguyen, Julien Gagneur, Fang-Yuan Shi, Matthew D Edwards, Yuchun Guo, Kevin Tian, Haoyang Zeng, David K Gifford, Jonathan Göke, Jan Zaucha, Julian Gough, Graham R S Ritchie, Adam Frankish, Jonathan M Mudge, Jennifer Harrow, Erin L Young, Yao Yu, Chad D Huff, Katsuhiko Murakami, Yoko Nagai, Tadashi Imanishi, Christopher J Mungall, Julius O B Jacobsen, Dongsup Kim, Chan-Seok Jeong, David T Jones, Mulin Jun Li, Violeta Beleva Guthrie, Rohit Bhattacharya, Yun-Ching Chen, Christopher Douville, Jean Fan, Dewey Kim, David Masica, Noushin Niknafs, Sohini Sengupta, Collin Tokheim, Tychele N Turner, Hui Ting Grace Yeo, Rachel Karchin, Sunyoung Shin, Rene Welch, Sunduz Keles, Yue Li, Manolis Kellis, Carles Corbi-Verge, Alexey V Strokach, Philip M Kim, Teri E Klein, Rahul Mohan, Nicholas A Sinnott-Armstrong, Michael Wainberg, Anshul Kundaje, Nina Gonzaludo, Angel C Y Mak, Aparna Chhibber, Hugo Y K Lam, Dvir Dahary, Simon Fishilevich, Doron Lancet, Insuk Lee, Benjamin Bachman, Panagiotis Katsonis, Rhonald C Lua, Stephen J Wilson, Olivier Lichtarge, Rajendra R Bhat, Laksshman Sundaram, Vivek Viswanath, Riccardo Bellazzi, Giovanna Nicora, Ettore Rizzo, Ivan Limongelli, Aziz M Mezlini, Ray Chang, Serra Kim, Carmen Lai, Robert O'Connor, Scott Topper, Jeroen van den Akker, Alicia Y Zhou, Anjali D Zimmer, Gilad Mishne, Timothy R Bergquist, Marcus R Breese, Rafael F Guerrero, Yuxiang Jiang, Nikki Kiga, Biao Li, Matthew Mort, Kymberleigh A Pagel, Vikas Pejaver, Moses H Stamboulian, Janita Thusberg, Sean D Mooney, Nuttinee Teerakulkittipong, Chen Cao, Kunal Kundu, Yizhou Yin, Chen-Hsin Yu, Michael Kleyman, Chiao-Feng Lin, Mary Stackpole, Stephen M Mount, Gökcen Eraslan, Nikola S Mueller, Tatsuhiko Naito, Aliz R Rao, Johnathan R Azaria, Aharon Brodie, Yanay Ofran, Aditi Garg, Debnath Pal, Alex Hawkins-Hooker, Henry Kenlay, John Reid, Eliseos J Mucaki, Peter K Rogan, Jana M Schwarz, David B Searls, Gyu Rie Lee, Chaok Seok, Andreas Krämer, Sohela Shah, ChengLai V Huang, Jack F Kirsch, Maxim Shatsky, Yue Cao, Haoran Chen, Mostafa Karimi, Oluwaseyi Moronfoye, Yuanfei Sun, Yang Shen, Ron Shigeta, Colby T Ford, Conor Nodzak, Aneeta Uppal, Xinghua Shi, Thomas Joseph, Sujatha Kotte, Sadhna Rana, Aditya Rao, V G Saipradeep, Naveen Sivadasan, Uma Sunderam, Mario Stanke, Andrew Su, Ivan Adzhubey, Daniel M Jordan, Shamil Sunyaev, Frederic Rousseau, Joost Schymkowitz, Joost Van Durme, Sean V Tavtigian, Marco Carraro, Manuel Giollo, Silvio C E Tosatto, Orit Adato, Liran Carmel, Noa E Cohen, Tzila Fenesh, Tamar Holtzer, Tamar Juven-Gershon, Ron Unger, Abhishek Niroula, Ayodeji Olatubosun, Jouni Väliaho, Yang Yang, Mauno Vihinen, Mary E Wahl, Billy Chang, Ka Chun Chong, Inchi Hu, Rui Sun, William Ka Kei Wu, Xiaoxuan Xia, Benny C Zee, Maggie H Wang, Meng Wang, Chunlei Wu, Yutong Lu, Ken Chen, Yuedong Yang, Christopher M Yates, Anat Kreimer, Zhongxia Yan, Nir Yosef, Huying Zhao, Zhipeng Wei, Zhaomin Yao, Fengfeng Zhou, Lukas Folkman, Yaoqi Zhou, Roxana Daneshjou, Russ B Altman, Fumitaka Inoue, Nadav Ahituv, Adam P Arkin, Federica Lovisa, Paolo Bonvini, Sarah Bowdin, Stefano Gianni, Elide Mantuano, Velia Minicozzi, Leonore Novak, Alessandra Pasquo, Annalisa Pastore, Maria Petrosino, Rita Puglisi, Angelo Toto, Liana Veneziano, Roberta Chiaraluce, Mad P Ball, Jason R Bobe, George M Church, Valerio Consalvi, David N Cooper, Bethany A Buckley, Molly B Sheridan, Garry R Cutting, Maria Chiara Scaini, Kamil J Cygan, Alger M Fredericks, David T Glidden, Christopher Neil, Christy L Rhine, William G Fairbrother, Aileen Y Alontaga, Aron W Fenton, Kenneth A Matreyek, Lea M Starita, Douglas M Fowler, Britt-Sabina Löscher, Andre Franke, Scott I Adamson, Brenton R Graveley, Joe W Gray, Mary J Malloy, John P Kane, Maria Kousi, Nicholas Katsanis, Max Schubach, Martin Kircher, Paul L F Tang, Pui-Yan Kwok, Richard H Lathrop, Wyatt T Clark, Guoying K Yu, Jonathan H LeBowitz, Francesco Benedicenti, Elisa Bettella, Stefania Bigoni, Federica Cesca, Isabella Mammi, Cristina Marino-Buslje, Donatella Milani, Angela Peron, Roberta Polli, Stefano Sartori, Franco Stanzial, Irene Toldo, Licia Turolla, Maria C Aspromonte, Mariagrazia Bellini, Emanuela Leonardi, Xiaoming Liu, Christian Marshall, W Richard McCombie, Lisa Elefanti, Chiara Menin, M Stephen Meyn, Alessandra Murgia, Kari C Y Nadeau, Susan L Neuhausen, Robert L Nussbaum, Mehdi Pirooznia, James B Potash, Dago F Dimster-Denk, Jasper D Rine, Jeremy R Sanford, Michael Snyder, Atina G Cote, Song Sun, Marta W Verby, Jochen Weile, Frederick P Roth, Ryan Tewhey, Pardis C Sabeti, Joan Campagna, Marwan M Refaat, Julianne Wojciak, Soren Grubb, Nicole Schmitt, Jay Shendure, Amanda B Spurdle, Dimitri J Stavropoulos, Nephi A Walton, Peter P Zandi, Elad Ziv, Wylie Burke, Flavia Chen, Lawrence R Carr, Selena Martinez, Jodi Paik, Julie Harris-Wai, Mark Yarborough, Stephanie M Fullerton, Barbara A Koenig, Gregory McInnes, Dustin Shigaki, John-Marc Chandonia, Mabel Furutsuki, Laura Kasak, Changhua Yu, Rui Chen, Iddo Friedberg, Gad A Getz, Qian Cong, Lisa N Kinch, Jing Zhang, Nick V Grishin, Alin Voskanian, Maricel G Kann, Elizabeth Tran, Nilah M Ioannidis, Jesse M Hunter, Rupa Udani, Binghuang Cai, Alexander A Morgan, Artem Sokolov, Joshua M Stuart, Giovanni Minervini, Alexander M Monzon, Serafim Batzoglou, Atul J Butte, Marc S Greenblatt, Reece K Hart, Ryan Hernandez, Tim J P Hubbard, Scott Kahn, Anne O'Donnell-Luria, Pauline C Ng, John Shon, Joris Veltman, Justin M Zook
المساهمون: Jain, Shantanu, Bakolitsa, Constantina, E Brenner, Steven, Radivojac, Predrag, Moult, John, Repo, Susanna, A Hoskins, Roger, Andreoletti, Gaia, Barsky, Daniel, Chellapan, Ajithavalli, Chu, Hoyin, Dabbiru, Navya, K Kollipara, Naveen, Ly, Melissa, J Neumann, Andrew, R Pal, Lipika, Odell, Eric, Pandey, Gaurav, C Peters-Petrulewicz, Robin, Srinivasan, Rajgopal, F Yee, Stephen, Jyothsna Yeleswarapu, Sri, Zuhl, Maya, Adebali, Ogun, Patra, Ayoti, A Beer, Michael, Hosur, Raghavendra, Peng, Jian, M Bernard, Brady, Berry, Michael, Dong, Shengcheng, P Boyle, Alan, Adhikari, Aashish, Chen, Jingqi, Hu, Zhiqiang, Wang, Robert, Wang, Yaqiong, Miller, Maximilian, Wang, Yanran, Bromberg, Yana, Turina, Paola, Capriotti, Emidio, J Han, Jame, Ozturk, Kivilcim, Carter, Hannah, Babbi, Giulia, Bovo, Samuele, Di Lena, Pietro, Luigi Martelli, Pier, Savojardo, Castrense, Casadio, Rita, S Cline, Melissa, De Baets, Greet, Bonache, Sandra, Díez, Orland, Gutiérrez-Enríquez, Sara, Fernández, Alejandro, Montalban, Gemma, Ootes, Lar, Özkan, Selen, Padilla, Natàlia, Riera, Casandra, De la Cruz, Xavier, Diekhans, Mark, J Huwe, Peter, Wei, Qiong, Xu, Qifang, L Dunbrack, Roland, Gotea, Valer, Elnitski, Laura, Margolin, Gennady, Fariselli, Piero, V Kulakovskiy, Ivan, J Makeev, Vsevolod, D Penzar, Dmitry, E Vorontsov, Ilya, V Favorov, Alexander, R Forman, Julia, Hasenahuer, Marcia, S Fornasari, Maria, Parisi, Gustavo, Avsec, Ziga, H Çelik, Muhammed, Yen Duong Nguyen, Thi, Gagneur, Julien, Shi, Fang-Yuan, D Edwards, Matthew, Guo, Yuchun, Tian, Kevin, Zeng, Haoyang, K Gifford, David, Göke, Jonathan, Zaucha, Jan, Gough, Julian, S Ritchie, Graham R, Frankish, Adam, M Mudge, Jonathan, Harrow, Jennifer, L Young, Erin, Yu, Yao
مصطلحات موضوعية: genetic variant, missense mutation, protein stability
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38389099; volume:22; issue:22;25(1):53.; firstpage:1; lastpage:46; numberofpages:46; journal:GENOME BIOLOGY; https://hdl.handle.net/11573/1703621Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85185859716
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3دورية أكاديمية
المؤلفون: Federica Cesca, Elisa Bettella, Roberta Polli, Emanuela Leonardi, Maria Cristina Aspromonte, Barbara Sicilian, Franco Stanzial, Francesco Benedicenti, Alberto Sensi, Andrea Ciorba, Stefania Bigoni, Elona Cama, Pietro Scimemi, Rosamaria Santarelli, Alessandra Murgia
المساهمون: Cesca, Federica, Bettella, Elisa, Polli, Roberta, Leonardi, Emanuela, Cristina Aspromonte, Maria, Sicilian, Barbara, Stanzial, Franco, Benedicenti, Francesco, Sensi, Alberto, Ciorba, Andrea, Bigoni, Stefania, Cama, Elona, Scimemi, Pietro, Santarelli, Rosamaria, Murgia, Alessandra
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32467589; info:eu-repo/semantics/altIdentifier/wos/WOS:000536074300001; volume:65; issue:10; firstpage:855; lastpage:864; numberofpages:10; journal:JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11392/2501341Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085478685; https://www.nature.com/articles/s10038-020-0783-1Test
الإتاحة: https://doi.org/10.1038/s10038-020-0783-1Test
https://hdl.handle.net/11392/2501341Test
https://www.nature.com/articles/s10038-020-0783-1Test -
4
المؤلفون: Rosamaria Santarelli, A. Sensi, Elona Cama, Pietro Scimemi, Maria Cristina Aspromonte, Elisa Bettella, Federica Cesca, Roberta Polli, Stefania Bigoni, Andrea Ciorba, Franco Stanzial, Barbara Sicilian, Emanuela Leonardi, Alessandra Murgia, Francesco Benedicenti
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Hearing loss, Usher syndrome, Hearing Loss, Sensorineural, Cadherin Related Proteins, 030105 genetics & heredity, Gene mutation, Biology, Deafness, Sensorineural, 03 medical and health sciences, Young Adult, Genetic Heterogeneity, otorhinolaryngologic diseases, Genetics, medicine, Connexin 30, Humans, Child, Preschool, Hearing Loss, Gene, Genetics (clinical), Genetic Association Studies, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, medicine.disease, Cadherins, Phenotype, Connexin 26, 030104 developmental biology, Child, Preschool, Mutation, biology.protein, Sensorineural hearing loss, Female, Usher Syndromes, medicine.symptom, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cf17a04343cb36b875fc056a9c670e3Test
http://hdl.handle.net/11577/3342974Test -
5مؤتمر
المؤلفون: Maria Cristina Aspromonte, Alessandra Gasparini, Roberta Polli, Elisa Bettella, Federica Cesca, Marco Carraro, Stefano Sartori, Silvio C. E. Tosatto, Alessandra Murgia, Emanuela Leonardi
المساهمون: Aspromonte, MARIA CRISTINA, Gasparini, Alessandra, Polli, Roberta, Bettella, Elisa, Cesca, Federica, Carraro, Marco, Sartori, Stefano, Tosatto, Silvio C. E., Murgia, Alessandra, Leonardi, Emanuela
وصف الملف: STAMPA
العلاقة: ispartofbook:Effective Diagnosis of Neurodevelopmental Disorders (NDDs) by Computational Analysis and Next Generation Sequencing; FEBS 2018; http://hdl.handle.net/11577/3359140Test
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6مؤتمر
المؤلفون: M. C. Aspromonte, Alessandra Gasparini, Roberta Polli, Elisa Bettella, Federica Cesca, M. Bellini, Francesco Benedicenti, Stefania Boni, Ombretta Carlet, F. Rivieri, R. Vittorini, Stefano Sartori, M. Carraro, S. C. E. Tosatto, A. Murgia, E. Leonardi
المساهمون: Aspromonte, M. C., Gasparini, Alessandra, Polli, Roberta, Bettella, Elisa, Cesca, Federica, Bellini, M., Benedicenti, Francesco, Boni, Stefania, Carlet, Ombretta, Rivieri, F., Vittorini, R., Sartori, Stefano, Carraro, M., Tosatto, S. C. E., Murgia, A., Leonardi, E.
وصف الملف: STAMPA
العلاقة: ispartofbook:High incidence of SHANK3 loss of function mutations in individuals with intellectual disability and autistic traits; ESHG 2018; http://hdl.handle.net/11577/3359139Test
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7مؤتمر
المؤلفون: Maria Cristina Aspromonte, Alessandra Gasparini, Roberta Polli, Elisa Bettella, Federica Cesca, Stefano Sartori, Stefania Bigoni, Isabella Mammi, Marco Carraro, Silvio C. E. Tosatto, Alessandra Murgia, Emanuela Leonardi
المساهمون: Aspromonte, MARIA CRISTINA, Gasparini, Alessandra, Polli, Roberta, Bettella, Elisa, Cesca, Federica, Sartori, Stefano, Bigoni, Stefania, Mammi, Isabella, Carraro, Marco, Tosatto, Silvio C. E., Murgia, Alessandra, Leonardi, Emanuela
وصف الملف: STAMPA
العلاقة: ispartofbook:TRIO variants in individuals with variable intellectual deficits; ESHG 2017; firstpage:1; lastpage:1; numberofpages:1; http://hdl.handle.net/11577/3359138Test
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المؤلفون: Roberta Polli, Rosamaria Santarelli, Elisa Bettella, Federica Cesca, Pietro Scimemi, Alessandra Murgia, Elona Cama
مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Hearing loss, Hearing Loss, Sensorineural, Next Generation Sequencing, Deafness, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Non-syndromic hearing loss, Audiometry, medicine, Humans, Family, Waardenburg Syndrome, Family history, Waardenburg Syndrome Type 1, Child, PAX3 Transcription Factor, Sanger sequencing, Genetics, EYA4, PAX3, business.industry, Waardenburg syndrome, EYA4, Non-syndromic hearing loss, PAX3, Waardenburg syndrome type 1, Next Generation Sequencing, High-Throughput Nucleotide Sequencing, General Medicine, medicine.disease, Pedigree, 030104 developmental biology, Phenotype, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, symbols, Trans-Activators, Sensorineural hearing loss, Female, medicine.symptom, business, 030217 neurology & neurosurgery, Waardenburg syndrome type 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1fe29aece1d4b37d5560787d6423111Test
http://hdl.handle.net/11577/3243662Test -
9مؤتمر
المؤلفون: Maria Cristina Aspromonte, Alessandra Gasparini, Marco Carraro, Elisa Bettella, Roberta Polli, Federica Cesca, Stefano Sartori, Irene Toldo, Stefania Bigoni, Angela Peron, Franco Stanzial, Silvio C. E. Tosatto, Alessandra Murgia, Emanuela Leonardi
المساهمون: Aspromonte, MARIA CRISTINA, Gasparini, Alessandra, Carraro, Marco, Bettella, Elisa, Polli, Roberta, Cesca, Federica, Sartori, Stefano, Toldo, Irene, Bigoni, Stefania, Peron, Angela, Stanzial, Franco, Tosatto, Silvio C. E., Murgia, Alessandra, Leonardi, Emanuela
وصف الملف: ELETTRONICO
العلاقة: ispartofbook:TARGETED GENE PANEL FOR COMORBID NEUROLOGICAL DISORDERS; SIGU 2016; http://hdl.handle.net/11577/3359145Test
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المصدر: The FASEB Journal. 28
مصطلحات موضوعية: SERCA, Membrane, biology, Chemistry, Endoplasmic reticulum, ATPase, Genetics, biology.protein, Cellular model, Molecular Biology, Biochemistry, Biotechnology, Cell biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::734f4d2b02f6944b4a5368943f15bbf6Test
https://doi.org/10.1096/fasebj.28.1_supplement.1138.8Test