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)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2175b81116c090cdd41775423141356eTest
https://doi.org/10.1038/s41431-022-01233-4Test

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

المصدر: Cells; Volume 12; Issue 13; Pages: 1711

مصطلحات موضوعية: FMR1 mRNA, CGG, premutation carriers, activation ratio, IQ, depression, methylation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::ad621b5680de36f947b903c0e097c2e3Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0c8e27fc9a636576ec1ca4adeefc62f0Test
https://doi.org/10.18332/popmed/164069Test

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

المصدر: Applied Sciences; Volume 12; Issue 3; Pages: 1612
Applied Sciences, Vol 12, Iss 1612, p 1612 (2022)

مصطلحات موضوعية: Fluid Flow and Transfer Processes, Technology, congenital, hereditary, and neonatal diseases and abnormalities, QH301-705.5, Process Chemistry and Technology, Physics, QC1-999, supervised learning, fragile X syndrome, gait analysis, surface electromyography, kinematics, General Engineering, Engineering (General). Civil engineering (General), Computer Science Applications, Chemistry, General Materials Science, TA1-2040, Biology (General), Instrumentation, QD1-999

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e9576a83bf830469cf23ca503b32939Test

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

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

المساهمون: Clinical Genetics

المصدر: Genome Medicine
Genome Medicine, 14(1):62. BioMed Central Ltd.
Genome Medicine, 14(1). BMC

مصطلحات موضوعية: RM, Computational protein modeling, Genotype, KCNK9 imprinting syndrome, Medizin, R1, Electrophysiology, Phenotype, Potassium Channels, Tandem Pore Domain, Neurodevelopmental disorder, Intellectual Disability, Mutation, Genetics, Humans, Muscle Hypotonia, Molecular Medicine, TASK3 channel, Molecular Biology, Genetics (clinical), KCNK9 imprinting syndrome, TASK3 channel, Neurodevelopmental disorder, Electrophysiology, Computational protein modeling

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbc832367f3e202b0b13807e3432ddb7Test
http://hdl.handle.net/11577/3455323Test

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 14

مصطلحات 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

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 11

مصطلحات 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

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

المؤلفون: Giacomo Talenti, Elisa Bettella, Irene Toldo, Alessandra Murgia, Roberta Polli, Alberto Burlina, Stefano Sartori, Claudia Maria Bonardi

المصدر: European Journal of Paediatric Neurology. 22:1042-1053

مصطلحات موضوعية: Male, Proband, Pathology, medicine.medical_specialty, Brain malformation, Mutation, Missense, Gene mutation, Pyridoxine-dependent epilepsy, Neonatal epileptic encephalopathy, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, 030225 pediatrics, medicine, ALDH7A1, Humans, Missense mutation, Child, Preschool, business.industry, Siblings, Brain, Infant, General Medicine, Neonatal seizures, Aldehyde Dehydrogenase, medicine.disease, Magnetic Resonance Imaging, Hypoplasia, Hydrocephalus, Phenotype, Vitamin B6, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Missense, business, 030217 neurology & neurosurgery, Ventriculomegaly

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4c7e6a3738978e2ca70672b943c0983Test
https://doi.org/10.1016/j.ejpn.2018.06.010Test