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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: 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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4دورية 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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5دورية 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
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6دورية أكاديمية
المؤلفون: Elisa Di Giorgio, Roberta Polli, Marco Lunghi, Alessandra Murgia
المصدر: International Journal of Environmental Research and Public Health, Vol 18, Iss 5752, p 5752 (2021)
مصطلحات موضوعية: COVID-19, children with fragile-X syndrome, lockdown effects, sleep problems, psychological well-being, parental self-efficacy, Medicine
العلاقة: https://www.mdpi.com/1660-4601/18/11/5752Test; https://doaj.org/toc/1661-7827Test; https://doaj.org/toc/1660-4601Test; https://doaj.org/article/203392c4515f4feca57ca5d4d389a2ecTest
الإتاحة: https://doi.org/10.3390/ijerph18115752Test
https://doaj.org/article/203392c4515f4feca57ca5d4d389a2ecTest -
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المؤلفون: Sean Massey, Wendy A. Gold, Miya St John, Dean Phelan, Elena Savva, Nicole J Van Bergen, Susan M. White, John Christodoulou, Sze Chern Lim, Michelle C Torres, Alessandra Murgia, Kristin A Rigbye, Simranpreet Kaur, Melanie Marty, Teresa Zhao, Emanuela Leonardi, Bruria Ben-Zeev, Benjamin Kamien, David Coman, Tiong Yang Tan
المصدر: Journal of Genetics and Genomics. 47:650-654
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Microcephaly, Adolescent, CDKL5, Rett syndrome, Biology, MECP2, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Rett Syndrome, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, Molecular Biology, Histone Acetyltransferases, 030304 developmental biology, 0303 health sciences, Stereotypic hand movements, Lysine Acetyltransferases, FORKHEAD BOX G1, medicine.disease, FOXG1, Child, Preschool, Female, Genetic diagnosis, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c96991d5ec2eaaa44197efc6bab7dc7cTest
https://doi.org/10.1016/j.jgg.2020.09.003Test -
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المؤلفون: Weronika Joanna Piątkowska, Roberta Polli, Annamaria Guiotto, Fabiola Spolaor, A. Ciniglio, Marco Ricca, F. Cibin, Zimi Sawacha, Alessandra Murgia
المصدر: Sensors, Vol 21, Iss 4746, p 4746 (2021)
Sensors (Basel, Switzerland)
Sensors
Volume 21
Issue 14مصطلحات موضوعية: Range of Motion, 030506 rehabilitation, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Electromyography, TP1-1185, surface electromyography, Biochemistry, Biceps, Article, Analytical Chemistry, Fragile X syndrome, Gait analysis, Kinematics, Surface electromyography, Biomechanical Phenomena, Child, Feasibility Studies, Humans, Range of Motion, Articular, Reproducibility of Results, Gait, Muscle, Skeletal, 03 medical and health sciences, 0302 clinical medicine, Gait (human), Physical medicine and rehabilitation, medicine, Electrical and Electronic Engineering, fragile X syndrome, Instrumentation, medicine.diagnostic_test, business.industry, Chemical technology, Motor control, Skeletal, medicine.disease, Atomic and Molecular Physics, and Optics, medicine.anatomical_structure, kinematics, gait analysis, Autism, Muscle, Ankle, 0305 other medical science, business, 030217 neurology & neurosurgery, Articular
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c36e8c92aa329efa19106ee2afe9be5dTest
https://www.mdpi.com/1424-8220/21/14/4746Test -
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المؤلفون: Marco Lunghi, Roberta Polli, Alessandra Murgia, Elisa Giorgio
المصدر: International Journal of Environmental Research and Public Health, Vol 18, Iss 5752, p 5752 (2021)
International Journal of Environmental Research and Public Health
Volume 18
Issue 11مصطلحات موضوعية: Coronavirus disease 2019 (COVID-19), children with fragile-X syndrome, lockdown effects, Health, Toxicology and Mutagenesis, media_common.quotation_subject, Psychological intervention, parental self-efficacy, Article, 03 medical and health sciences, Social support, 0302 clinical medicine, Perception, Pandemic, medicine, Humans, 0501 psychology and cognitive sciences, Child, Pandemics, media_common, Retrospective Studies, sleep problems, SARS-CoV-2, 05 social sciences, Public Health, Environmental and Occupational Health, COVID-19, Retrospective cohort study, medicine.disease, Fragile X syndrome, psychological well-being, Italy, Psychological well-being, Fragile X Syndrome, Communicable Disease Control, Medicine, Female, Psychology, 030217 neurology & neurosurgery, 050104 developmental & child psychology, Clinical psychology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f8a8d5af68e477999a67bfe3da496c7Test
https://www.mdpi.com/1660-4601/18/11/5752Test -
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المؤلفون: Chiara Pantaleoni, Alessandra Murgia, Silvia Esposito, Claudia Ciaccio, Emanuela Leonardi, Roberta Polli, Luisa Chiapparini, Stefano D'Arrigo, Elisa Granocchio
المصدر: Neuropediatrics. 52(6)
مصطلحات موضوعية: 0301 basic medicine, Axonal fasciculation, cerebellar hypoplasia, Autism Spectrum Disorder, Developmental Disabilities, Central nervous system, medicine.disease_cause, Nervous System Malformations, pediatric ataxia, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Cerebellum, medicine, Missense mutation, Humans, developmental disorders, developmental delay, KIRREL3, CASK, Child, Mutation, business.industry, General Medicine, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Autism spectrum disorder, Neurodevelopmental Disorders, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb57a0ce9fbdb20866e0d62693694966Test
https://pubmed.ncbi.nlm.nih.gov/33853164Test