-
1
المؤلفون: Angela T Morgan, Kate Pope, Himanshu Goel, Ingrid E. Scheffer, Richard J. Leventer, Ruth O Braden, Jessica O Boyce, Chloe A Stutterd
المصدر: Neurology. 96:e1898-e1912
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Audiology, Young Adult, 03 medical and health sciences, Nonverbal communication, Dysarthria, 0302 clinical medicine, Polymicrogyria, Humans, Medicine, Language Development Disorders, 0501 psychology and cognitive sciences, Language disorder, Child, Anarthria, biology, business.industry, 05 social sciences, Cognition, Phonology, medicine.disease, Perisylvian polymicrogyria, biology.organism_classification, Magnetic Resonance Imaging, Child, Preschool, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, 050104 developmental & child psychology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18e2729b7044759b544957eda4d044f6
https://doi.org/10.1212/wnl.0000000000011698 -
2
المؤلفون: Maggie MK Wong, Rosalie A Kampen, Ruth O Braden, Gökberk Alagöz, Michael S Hildebrand, Christopher Barnett, Meghan Barnett, Alfredo Brusco, Diana Carli, Bert BA de Vries, Alexander JM Dingemans, Frances Elmslie, Giovanni B Ferrero, Nadieh A Jansen, Ingrid MBH van de Laar, Alice Moroni, David Mowat, Lucinda Murray, Francesca Novara, Angela Peron, Ingrid E Scheffer, Fabio Sirchia, Samantha J Turner, Aglaia Vignoli, Arianna Vino, Sacha Weber, Wendy K Chung, Marion Gerard, Vanessa López-González, Elizabeth Palmer, Angela T Morgan, Bregje W van Bon, Simon E Fisher
المصدر: medRxiv
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d78967a32ce84431daf9ab39c0fd6033
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7 -
3
المؤلفون: Maggie M K Wong, Chloé Quélin, Tjitske Kleefstra, Arie van Haeringen, Simon E. Fisher, Mathilde Nizon, Massimiliano Rossi, Sandra Whalen, Angela T Morgan, Erin F Otness, Gaetan Lesca, Raphael Bernier, Siddharth Srivastava, Nadieh A Jansen, Ruth O Braden, Bregje W.M. van Bon
المصدر: European Journal of Human Genetics, 29(8), 1198-1205. SPRINGERNATURE
Eur J Hum Genet
European Journal of Human Genetics
European Journal of Human Genetics, 29, 8, pp. 1198-1205
European Journal of Human Genetics, 29, 1198-1205مصطلحات موضوعية: Neuroinformatics, Adult, Male, Adolescent, Developmental Disabilities, Haploinsufficiency, Bioinformatics, Article, 03 medical and health sciences, Loss of Function Mutation, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Expressivity (genetics), Clinical phenotype, Child, Genetics (clinical), Aged, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, 030305 genetics & heredity, Infant, Nuclear Proteins, Syndrome, Gene deletion, Middle Aged, medicine.disease, Penetrance, Hypotonia, Patient management, Phenotype, Attention Deficit Disorder with Hyperactivity, Child, Preschool, Female, medicine.symptom, business, Carrier Proteins
وصف الملف: application/vnd.openxmlformats-officedocument.spreadsheetml.sheet; application/pdf
-
4
المؤلفون: Lottie D. Morison, Ruth O. Braden, David J. Amor, Amanda Brignell, Bregje W. M. van Bon, Angela T. Morgan
المصدر: European Journal of Human Genetics, 30, 7, pp. 800-811
Eur J Hum Genet
European Journal of Human Genetics, 30, 800-811مصطلحات موضوعية: Male, Motivation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Apraxias, Autism Spectrum Disorder, Dysarthria, Syndrome, Article, Genetics, Humans, Speech, Language Development Disorders, Prospective Studies, Genetics (clinical)
-
5
المؤلفون: Sheena Reilly, Kerryn Saunders, Frédérique Liégeois, David Coman, Michael S. Hildebrand, Jozef Gecz, Himanshu Goel, Martin B. Delatycki, Melanie Bahlo, Ingrid E. Scheffer, Anne Baxter, Samantha J. Turner, Kristin A Rigbye, Michael Hayman, Alan Connelly, Sarah Barton, Matthew Coleman, Georgia A Paxton, Michael C Fahey, Simon E. Fisher, Ruth O Braden, David J. Amor, Thomas S. Scerri, Olivia van Reyk, Victoria E. Jackson, Amber Boys, Noni M Davis, Richard D. Webster, Bronwyn Parry-Fielder, Angela T Morgan, Alan Ma
المصدر: Neurology, 94, 20, pp. e2148-e2167
Neurology, 94, e2148-e2167
Neurologyمصطلحات موضوعية: Male, Neuroinformatics, 0301 basic medicine, Proband, Adolescent, Apraxias, Locus (genetics), GTP-Binding Protein alpha Subunits, Gi-Go, 030105 genetics & heredity, Biology, Speech Disorders, 03 medical and health sciences, medicine, Humans, Speech, Child, Exome, Gene, Genetic Association Studies, Genetics, Genetic heterogeneity, medicine.disease, 030104 developmental biology, Child, Preschool, Childhood apraxia of speech, Female, Speech disorder, Human genome, Neurology (clinical), medicine.symptom, Transcription Factors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17b96302fc633b11c7d4f78145b96250
https://doi.org/10.1212/wnl.0000000000009441 -
6
المؤلفون: Varoona Bizaoui, Siddharth Srivastava, Simon E. Fisher, Angela T Morgan, Bregje W.M. van Bon, Ruth O Braden, Adam P. Vogel, David J. Amor, Estelle Colin, Frédérique Liégeois, Maggie M K Wong, Kara Ranguin
المصدر: European Journal of Human Genetics, 29, 8, pp. 1216-1225
Eur J Hum Genet
European Journal of Human Genetics
European Journal of Human Genetics, 29, 1216-1225مصطلحات موضوعية: Neuroinformatics, medicine.medical_specialty, media_common.quotation_subject, Haploinsufficiency, Audiology, Sign language, Literacy, Article, Speech Disorders, Dysarthria, Genetics, medicine, Humans, Speech, Genetics (clinical), media_common, Language, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Communication, Nuclear Proteins, Syndrome, medicine.disease, Comprehension, Childhood apraxia of speech, medicine.symptom, Psychology, Carrier Proteins, Spoken language, Gesture
وصف الملف: application/pdf
-
7
المؤلفون: Angela T Morgan, Heather C Mefford, Simon E. Fisher, Lindsay C. Swanson, Ingrid E. Scheffer, Candace T. Myers, Siddharth Srivastava, Cristina Mei, Deepak Gill, Himanshu Goel, David J. Amor, Ruth O Braden
المصدر: Developmental Medicine & Child Neurology
Developmental Medicine & Child Neurology, 63, 1417-1426
Developmental Medicine & Child Neurology, 63, 12, pp. 1417-1426مصطلحات موضوعية: Adult, Male, Neuroinformatics, 030506 rehabilitation, medicine.medical_specialty, Adolescent, Audiology, Intelligibility (communication), Speech Disorders, Young Adult, 03 medical and health sciences, Dysarthria, Cognition, 0302 clinical medicine, Developmental Neuroscience, Intellectual disability, medicine, Feature (machine learning), Humans, Speech, Child, Language, Forkhead Transcription Factors, medicine.disease, Mental health, Repressor Proteins, Comprehension, Phenotype, Pediatrics, Perinatology and Child Health, Cohort, Female, Neurology (clinical), medicine.symptom, 0305 other medical science, Psychology, 030217 neurology & neurosurgery
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
-
8
المساهمون: Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Pediatrics
مصطلحات موضوعية: 030506 rehabilitation, medicine.medical_specialty, Speech production, MEDLINE, Clinical Neurology, Audiology, Severity of Illness Index, 03 medical and health sciences, Dysarthria, 0302 clinical medicine, Developmental Neuroscience, Intellectual Disability, Intellectual disability, medicine, Polymicrogyria, Humans, Speech, Abnormalities, Multiple, Language Development Disorders, Pediatrics, Perinatology, and Child Health, Language, business.industry, Auditory processing disorder, Perisylvian polymicrogyria, medicine.disease, Malformations of Cortical Development, Phenotype, Pediatrics, Perinatology and Child Health, Speech disorder, Neurology (clinical), medicine.symptom, 0305 other medical science, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e593145f58fdeb5c92b8b79901d18f00
https://doi.org/10.1111/dmcn.14153 -
9
المؤلفون: Ingrid E. Scheffer, Jennifer L. Johnson, Hyung-Goo Kim, Michael S. Hildebrand, Ping Jun Zhu, Penelope E. Bonnen, Amanda Brignell, Christine Beeton, Victoria E. Jackson, Abhisek Bhattacharya, N. Tony Eissa, Urwah Nawaz, Yuwei Liu, Redwan Huq, Thomas S. Scerri, Loredana Stoica, Melanie Bahlo, Bo T. Porse, Renee Carroll, Jozef Gecz, Matthew Coleman, Usha Kini, Deepti Domingo, Ola Larsson, Anne Baxter, David J. Amor, Lachlan A. Jolly, Shelly A. Buffington, Mauro Costa-Mattioli, Ruth O Braden, Angela T Morgan
المصدر: Johnson, J L, Stoica, L, Liu, Y, Zhu, P J, Bhattacharya, A, Buffington, S, Huq, R, Eissa, N T, Larsson, O, Porse, B T, Domingo, D, Nawaz, U, Carroll, R, Jolly, L, Scerri, T S, Kim, H-G, Brignell, A, Coleman, M J, Braden, R, Kini, U, Jackson, V, Baxter, A, Bahlo, M, Scheffer, I E, Amor, D J, Hildebrand, M S, Bonnen, P E, Beeton, C, Gecz, J, Morgan, A T & Costa-Mattioli, M 2019, ' Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response ', Neuron, vol. 104, no. 4, pp. 665-679 . https://doi.org/10.1016/j.neuron.2019.08.027
Neuronمصطلحات موضوعية: 0301 basic medicine, Male, Nonsense-mediated decay, autism, Inflammation, speech disorder, immune response, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, Research Support, N.I.H., Extramural, Memory, Intellectual disability, medicine, Journal Article, Animals, Humans, Learning, Language Development Disorders, RNA, Messenger, Child, Mice, Knockout, mRNA quality control, business.industry, General Neuroscience, Research Support, Non-U.S. Gov't, RNA-Binding Proteins, Long-term potentiation, medicine.disease, 3. Good health, Nonsense Mediated mRNA Decay, 030104 developmental biology, Phenotype, Autism spectrum disorder, Neurodevelopmental Disorders, Synaptic plasticity, Forebrain, Autism, Drosophila, Female, medicine.symptom, business, Carrier Proteins, Neuroscience, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad35e7f7e3352d68951cef438e476e08
https://pubmed.ncbi.nlm.nih.gov/31751540
Find this article in full text from Springer Verlag.