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1دورية أكاديمية
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
العلاقة: https://doaj.org/toc/1558-8238Test
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2دورية أكاديمية
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
العلاقة: https://doaj.org/toc/1756-994XTest
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3دورية أكاديمية
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
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4دورية أكاديمية
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
العلاقة: https://doaj.org/toc/2041-1723Test
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5دورية أكاديمية
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
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6دورية أكاديمية
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
العلاقة: https://doaj.org/toc/2045-2322Test
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7دورية أكاديمية
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
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2020.593446/fullTest; https://doaj.org/toc/1664-2295Test
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8دورية أكاديمية
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
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9دورية أكاديمية
المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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10دورية أكاديمية
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