المؤلفون: Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: KCNK9 imprinting syndrome, TASK3 channel, Neurodevelopmental disorder, Electrophysiology, Computational protein modeling, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/e3306fa1990545148f66b913263d56ba

المؤلفون: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

المصدر: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)

مصطلحات موضوعية: Cell biology, Genetics, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1558-8238

URL الوصول: https://doaj.org/article/47a113198d5649e88315ddec99f2067f

المؤلفون: Dragana Protic, Roberta Polli, Ye Hyun Hwang, Guadalupe Mendoza, Randi Hagerman, Blythe Durbin-Johnson, Bruce E. Hayward, Karen Usdin, Alessandra Murgia, Flora Tassone

المصدر: Cells, Vol 12, Iss 13, p 1711 (2023)

مصطلحات موضوعية: FMR1 mRNA, CGG, premutation carriers, activation ratio, IQ, depression, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/12/13/1711; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/64f3f84992504e078c95bd3c3cb93529

المؤلفون: Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W. van Bon, Tuula Rinne, Servi J. C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna J. Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, University of Washington Center for Mendelian Genomics, Saadet Mercimek-Andrews, Jane Juusola, Amy B. Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia K. Bijlsma, Mariëtte J. V. Hoffer, Claudia A. L. Ruivenkamp, Stefano Sartori, Fan Xia, Jill A. Rosenfeld, Raphael A. Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P. A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/663adb56ce6f405da787645af9303af8

المؤلفون: Emanuela Leonardi, Elisa Bettella, Maria Federica Pelizza, Maria Cristina Aspromonte, Roberta Polli, Clementina Boniver, Stefano Sartori, Donatella Milani, Alessandra Murgia

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: SETBP1, ID, epilepsy, epileptic encephalopathy, NGS, gene panel, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2020.593446/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/4eafa9de15244dd99f166bf566148d99

المؤلفون: Randi Hagerman, Sebastien Jacquemont, Elizabeth Berry-Kravis, Vincent Des Portes, Andrew Stanfield, Barbara Koumaras, Gerd Rosenkranz, Alessandra Murgia, Christian Wolf, George Apostol, Florian von Raison

المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: Mavoglurant, Core Studies, Fragile X Mental Retardation Protein (FMRP), Repetitive Behavior Scale-Revised (RBS-R), Extension Study Baseline, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/b0c86247e00a4aa7a01f18f018f9be46

المؤلفون: Weronika Joanna Piatkowska, Fabiola Spolaor, Marco Romanato, Roberta Polli, Alessandra Huang, Alessandra Murgia, Zimi Sawacha

المصدر: Applied Sciences, Vol 12, Iss 3, p 1612 (2022)

مصطلحات موضوعية: supervised learning, fragile X syndrome, gait analysis, surface electromyography, kinematics, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3417/12/3/1612; https://doaj.org/toc/2076-3417

URL الوصول: https://doaj.org/article/684d41e7004f45fe8ec4a66bf274a300

المؤلفون: Alessandra Gasparini, Silvio C. E. Tosatto, Alessandra Murgia, Emanuela Leonardi

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/9f4c79e77cbb4bdda097db6a4d6e5c4b

المؤلفون: Zimi Sawacha, Fabiola Spolaor, Weronika Joanna Piątkowska, Federica Cibin, Alfredo Ciniglio, Annamaria Guiotto, Marco Ricca, Roberta Polli, Alessandra Murgia

المصدر: Sensors, Vol 21, Iss 14, p 4746 (2021)

مصطلحات موضوعية: gait analysis, fragile X syndrome, surface electromyography, kinematics, Chemical technology, TP1-1185

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1424-8220/21/14/4746; https://doaj.org/toc/1424-8220

URL الوصول: https://doaj.org/article/17619e77771b47d2941bfd580ca9da57

المؤلفون: Noemi Mereu, Alessandra Mereu, Alessandra Murgia, Arianna Liori, Michela Piga, Federico Argiolas, Graziella Salis, Simonetta Santus, Carmela Porcu, Paolo Contu, Claudia Sardu

المصدر: Vaccines, Vol 8, Iss 4, p 701 (2020)

مصطلحات موضوعية: vaccination attitude, vaccine hesitancy, new-born babies’ mothers, early communication, prenatal courses, birth centre, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-393X/8/4/701; https://doaj.org/toc/2076-393X

URL الوصول: https://doaj.org/article/7a4bff9bf3c74a80b88c4fe013e95bbe

المؤلفون: Alessandra Murgia, Blythe Durbin-Johnson, Carolyn M. Yrigollen, Elizabeth Berry-Kravis, Flora Tassone, Gabriel de Jesus Silva Arevalo, Huda Shaheen, Isabel Fernandez-Carvajal, Khaled Amiri, Lili Zhou, Luis Murillo-Bonilla, Patricia Cogram, Roberta Polli, Stefan Sweha, Sultana MH Faradz

المصدر: Intractable & Rare Diseases Research. 2014, 3(4):153

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

Relation: 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/11573/1703621; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85185859716

الاتاحة: https://hdl.handle.net/11573/1703621
https://doi.org/10.1186/s13059-023-03113-6

المؤلفون: Fabiola Spolaor, Annamaria Guiotto, Giulio Rigoni, Weronika Piatkowska, Elisa Di Giorgio, Valentina Liani, Roberta Polli, Alessandra Murgia, Zimi Sawacha

المساهمون: Spolaor, Fabiola, Guiotto, Annamaria, Rigoni, Giulio, Piatkowska, Weronika, DI GIORGIO, Elisa, Liani, Valentina, Polli, Roberta, Murgia, Alessandra, Sawacha, Zimi

وصف الملف: ELETTRONICO

Relation: ispartofbook:ESB proceedings; European Society of Biomechanics Conference 2024; https://hdl.handle.net/11577/3532008

الاتاحة: https://hdl.handle.net/11577/3532008

المؤلفون: Fabiola Spolaor, Federica Beghetti, Annamaria Guiotto, Elisa Di Giorgio, Valentina Liani, Roberta Polli, Giulio Rigoni, Alessandra Murgia, Zimi Sawacha

المساهمون: Spolaor, Fabiola, Beghetti, Federica, Guiotto, Annamaria, DI GIORGIO, Elisa, Liani, Valentina, Polli, Roberta, Rigoni, Giulio, Murgia, Alessandra, Sawacha, Zimi

مصطلحات موضوعية: Fragile X Syndrome, gait analysis, Electromyography, machine learning

وصف الملف: ELETTRONICO

Relation: volume:113; issue:S1; firstpage:203; lastpage:204; numberofpages:2; journal:GAIT & POSTURE; https://hdl.handle.net/11577/3532013

الاتاحة: https://hdl.handle.net/11577/3532013
https://pdf.sciencedirectassets.com/271166/1-s2.0-S0966636224X00077/1-s2.0-S0966636224004314/main.pdf?X-Amz-Security-Token=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&X-Amz-Algorithm=AWS4-HMAC-SHA256&X-Amz-Date=20240930T140850Z&X-Amz-SignedHeaders=host&X-Amz-Expires=300&X-Amz-Credential=ASIAQ3PHCVTY3GK7JE55/20240930/us-east-1/s3/aws4_request&X-Amz-Signature=8f87fcd7eabfee72e44982ce8725e4e0566e4b2b9b9a8ee06dd827dc86067a1d&hash=b880cb21f50e170194c01a817827595508369d2c05df4db51b1df919d43531f3&host=68042c943591013ac2b2430a89b270f6af2c76d8dfd086a07176afe7c76c2c61&pii=S0966636224004314&tid=spdf-305c9118-e1f2-41b0-ace8-b710b144ab8c&sid=0d6bca18963c874e0a3bdba-48821e405180gxrqb&type=client&tsoh=d3d3LnNjaWVuY2VkaXJlY3QuY29t&ua=13175b0004520559590e&rr=8cb4c98a2c4e0e71&cc=it

المؤلفون: Maria Cristina Aspromonte, Emanuela Leonardi, Roberta Polli, Elisa Bettella, Marilena Cameran, Renzo Guerrini, Alessandra Murgia

المساهمون: Aspromonte, MARIA CRISTINA, Leonardi, Emanuela, Polli, Roberta, Bettella, Elisa, Cameran, Marilena, Guerrini, Renzo, Murgia, Alessandra

وصف الملف: ELETTRONICO

Relation: ispartofbook:PPP2R5D variants in patients with variable neurodevelopmental phenotype; ESHG 2020; http://hdl.handle.net/11577/3359141

الاتاحة: http://hdl.handle.net/11577/3359141

المؤلفون: Elisa Di Giorgio, Roberta Polli, Marco Lunghi, Alessandra Murgia

المصدر: International Journal of Environmental Research and Public Health; Volume 18; Issue 11; Pages: 5752

مصطلحات موضوعية: COVID-19, children with fragile-X syndrome, lockdown effects, sleep problems, psychological well-being, parental self-efficacy

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Mental Health; https://dx.doi.org/10.3390/ijerph18115752

الاتاحة: https://doi.org/10.3390/ijerph18115752

المؤلفون: Fabiola Spolaor, Annamaria Guiotto, W. Piatkowska, Elisa DiGiorgio, Valentina Liani, Roberta Polli, Alessandra Murgia, Zimi Sawacha, DI GIORGIO, ELISA

المساهمون: Spolaor, Fabiola, Guiotto, Annamaria, Piatkowska, W., Digiorgio, Elisa, Liani, Valentina, Polli, Roberta, Murgia, Alessandra, Sawacha, Zimi

Relation: ispartofbook:ESB 2023 Proceedings; ESB 2023; https://hdl.handle.net/11577/3532014

الاتاحة: https://hdl.handle.net/11577/3532014

المؤلفون: Emanuela Leonardi, Maria Cristina Aspromonte, Denise Drongitis, Elisa Bettella, Lucia Verrillo, Roberta Polli, Meriel McEntagart, Laura Licchetta, Robertino Dilena, Stefano D’Arrigo, Claudia Ciaccio, Silvia Esposito, Vincenzo Leuzzi, Annalaura Torella, Demetrio Baldo, Fortunato Lonardo, Giulia Bonato, Serena Pellegrin, Franco Stanzial, Renata Posmyk, Ewa Kaczorowska, Miryam Carecchio, Monika Gos, Sylwia Rzońca-Niewczas, Maria Giuseppina Miano, Alessandra Murgia

المساهمون: Leonardi, Emanuela, Aspromonte, Maria Cristina, Drongitis, Denise, Bettella, Elisa, Verrillo, Lucia, Polli, Roberta, Mcentagart, Meriel, Licchetta, Laura, Dilena, Robertino, D'Arrigo, Stefano, Ciaccio, Claudia, Esposito, Silvia, Leuzzi, Vincenzo, Torella, Annalaura, Baldo, Demetrio, Lonardo, Fortunato, Bonato, Giulia, Pellegrin, Serena, Stanzial, Franco, Posmyk, Renata, Kaczorowska, Ewa, Carecchio, Miryam, Gos, Monika, Rzońca-Niewczas, Sylwia, Miano, Maria Giuseppina, Murgia, Alessandra

المصدر: European Journal of Human Genetics. 31:202-215

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2175b81116c090cdd41775423141356e
https://doi.org/10.1038/s41431-022-01233-4

المؤلفون: Emanuela Leonardi, Mariagrazia Bellini, Maria C. Aspromonte, Roberta Polli, Anna Mercante, Claudia Ciaccio, Elisa Granocchio, Elisa Bettella, Ilaria Donati, Elisa Cainelli, Stefania Boni, Stefano Sartori, Chiara Pantaleoni, Clementina Boniver, Alessandra Murgia

المصدر: Genes; Volume 11; Issue 3; Pages: 344

مصطلحات موضوعية: WAC, ASD, ID, ESES, epilepsy, NGS, gene panel, mosaicism

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11030344

الاتاحة: https://doi.org/10.3390/genes11030344

المؤلفون: Wisam Salameh, Alberto Lai, Maria Zedda, Serenella Secci, Federica Schirru, Alessia Raggio, Martina Lallai, Alessandra Murgia

المصدر: Population Medicine. 5

مصطلحات موضوعية: Health (social science), Epidemiology, Health Policy, Public Health, Environmental and Occupational Health, Medicine (miscellaneous), Health Informatics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0c8e27fc9a636576ec1ca4adeefc62f0
https://doi.org/10.18332/popmed/164069