المؤلفون: Elizabeth J. Radford, Hong-Kee Tan, Malin H. L. Andersson, James D. Stephenson, Eugene J. Gardner, Holly Ironfield, Andrew J. Waters, Daniel Gitterman, Sarah Lindsay, Federico Abascal, Iñigo Martincorena, Anna Kolesnik-Taylor, Elise Ng-Cordell, Helen V. Firth, Kate Baker, John R. B. Perry, David J. Adams, Sebastian S. Gerety, Matthew E. Hurles

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/787606f0736b45d2b045e1283e0cd595

المؤلفون: Jannath Begum-Ali, Anna Kolesnik-Taylor, Isabel Quiroz, Luke Mason, Shruti Garg, Jonathan Green, Mark H. Johnson, Emily J. H. Jones, the STAARS and EDEN Teams

المصدر: Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-19 (2021)

مصطلحات موضوعية: Neurofibromatosis type 1, Auditory processing, Habituation, Change detection, EEG, Autism spectrum disorder, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1866-1947; https://doaj.org/toc/1866-1955

URL الوصول: https://doaj.org/article/844c0ffc8ef04d14b54c4b04e59c555d

المؤلفون: Shruti Garg, Ming Wai Wan, Jannath Begum-Ali, Anna Kolesnik-Taylor, Jonathan Green, Mark H. Johnson, Emily Jones

المصدر: Frontiers in Psychology, Vol 13 (2022)

مصطلحات موضوعية: NF1 = neurofibromatosis type 1, autism, natural history, cognition, behaviour, Psychology, BF1-990

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyg.2022.795951/full; https://doaj.org/toc/1664-1078

URL الوصول: https://doaj.org/article/818fbde32df3436e8614851b3586e4ea

المؤلفون: Jannath Begum-Ali (10893857), Anna Kolesnik-Taylor (10893860), Isabel Quiroz (10893863), Luke Mason (8482494), Shruti Garg (4614364), Jonathan Green (22815), Mark H. Johnson (7280498), Emily J. H. Jones (10893866)

مصطلحات موضوعية: Medicine, Neuroscience, Sociology, Science Policy, Biological Sciences not elsewhere classified, Neurofibromatosis type 1, Auditory processing, Habituation, Change detection, EEG, Autism spectrum disorder

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Early_differences_in_auditory_processing_relate_to_Autism_Spectrum_Disorder_traits_in_infants_with_Neurofibromatosis_Type_I/14700437

الاتاحة: https://doi.org/10.6084/m9.figshare.14700437.v1

المؤلفون: Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, Ganna Balagura, Eryn Fitch, Katherine Helbig, Jing Gan, Shiva Ganesan, Michael C Kaufman, Colin A Ellis, David Lewis-Smith, Peter Galer, Kristin Cunningham, Margaret O’Brien, Mahgenn Cosico, Kate Baker, Alejandra Darling, Fernanda Veiga de Goes, Christelle M El Achkar, Jan Henje Doering, Francesca Furia, Ángeles García-Cazorla, Elena Gardella, Lisa Geertjens, Courtney Klein, Anna Kolesnik-Taylor, Hanna Lammertse, Jeehun Lee, Alexandra Mackie, Mala Misra-Isrie, Heather Olson, Emma Sexton, Beth Sheidley, Lacey Smith, Luiza Sotero, Hannah Stamberger, Steffen Syrbe, Kim Marie Thalwitzer, Annemiek van Berkel, Mieke van Haelst, Christopher Yuskaitis, Sarah Weckhuysen, Ben Prosser, Charlene Son Rigby, Scott Demarest, Samuel Pierce, Yuehua Zhang, Rikke S Møller, Hilgo Bruining, Annapurna Poduri, Federico Zara, Matthijs Verhage, Pasquale Striano, Ingo Helbig

المساهمون: Child and Adolescent Psychiatry & Psychosocial Care, APH - Digital Health, APH - Mental Health, VU University medical center, Clinical genetics, Amsterdam Reproduction & Development, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Xian, Julie [0000-0002-0205-0648], Ruggiero, Sarah M [0000-0002-0834-0750], Balagura, Ganna [0000-0003-0212-8318], Helbig, Katherine [0000-0001-8249-0549], Kaufman, Michael C [0000-0003-2718-296X], Lewis-Smith, David [0000-0002-1735-8178], Gardella, Elena [0000-0002-7138-6022], Olson, Heather [0000-0002-5385-0119], Weckhuysen, Sarah [0000-0003-2878-1147], Verhage, Matthijs [0000-0002-5452-5000], Helbig, Ingo [0000-0001-8486-0558], Apollo - University of Cambridge Repository, Human genetics, Amsterdam Reproduction & Development (AR&D), Functional Genomics

المصدر: Brain, 145(5), 1668-1683. Oxford University Press
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, El Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain : a journal of neurology, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Brain : a journal of neurology, 145(5), 1668-1683. Oxford University Press
Brain

مصطلحات موضوعية: 0303 health sciences, STXBP1, Human Phenotype Ontology, developmental and epileptic encephalopathy, epilepsy, genetics, Electroencephalography, Humans, Infant, Munc18 Proteins, Retrospective Studies, Seizures, Epilepsy, Spasms, Infantile, Infantile, Spasms, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Human medicine, Neurology (clinical), 030217 neurology & neurosurgery, 030304 developmental biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::151b25ac565ddc4ef4cb44137115e932
http://www.scopus.com/inward/record.url?scp=85127359568&partnerID=8YFLogxK

المؤلفون: Elise Ng-Cordell, Anna Kolesnik-Taylor, Sinéad O’Brien, Duncan Astle, Gaia Scerif, Kate Baker

المساهمون: Ng-Cordell, Elise [0000-0002-4747-8138], Kolesnik-Taylor, Anna [0000-0002-1395-0377], O'Brien, Sinéad [0000-0003-1556-4047], Astle, Duncan [0000-0002-7042-5392], Scerif, Gaia [0000-0002-6371-8875], Baker, Kate [0000-0003-2986-0584], Apollo - University of Cambridge Repository

المصدر: Journal of autism and developmental disorders.

مصطلحات موضوعية: DEAD-box RNA Helicases, Autism Spectrum Disorder, Autism, Intellectual Disability, Emotions, Developmental and Educational Psychology, DDX3X, Humans, Female, Anxiety, Autistic Disorder, Self-injurious behaviour

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c53b1aa2258672c09f8eb604ac777c
https://pubmed.ncbi.nlm.nih.gov/35536379

المؤلفون: Shruti Garg, Ming Wai Wan, Jannath Begum-Ali, Anna Kolesnik-Taylor, Jonathan Green, Mark H. Johnson, Emily Jones

مصطلحات موضوعية: Applied Psychology, Clinical Psychology, Developmental and Educational Psychology, Neuroscience and Physiological Psychology, Organizational Behavioral Psychology, Personality, Social and Criminal Psychology, Gender Psychology, Health, Clinical and Counselling Psychology, Industrial and Organisational Psychology, Psychology not elsewhere classified, Psychology and Cognitive Sciences not elsewhere classified, NF1 = neurofibromatosis type 1, autism, natural history, cognition, behaviour

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Early_Developmental_Trajectories_in_Infants_With_Neurofibromatosis_1_DOCX/20358135

الاتاحة: https://doi.org/10.3389/fpsyg.2022.795951.s001
https://figshare.com/articles/dataset/Data_Sheet_1_Early_Developmental_Trajectories_in_Infants_With_Neurofibromatosis_1_DOCX/20358135

المؤلفون: Shruti Garg, Ming Wai Wan, Jannath Begum-Ali, Anna Kolesnik-Taylor, Jonathan Green, Mark H. Johnson, Emily Jones

مصطلحات موضوعية: Applied Psychology, Clinical Psychology, Developmental and Educational Psychology, Neuroscience and Physiological Psychology, Organizational Behavioral Psychology, Personality, Social and Criminal Psychology, Gender Psychology, Health, Clinical and Counselling Psychology, Industrial and Organisational Psychology, Psychology not elsewhere classified, Psychology and Cognitive Sciences not elsewhere classified, NF1 = neurofibromatosis type 1, autism, natural history, cognition, behaviour

Relation: https://figshare.com/articles/dataset/Table_1_Early_Developmental_Trajectories_in_Infants_With_Neurofibromatosis_1_docx/20358138

الاتاحة: https://doi.org/10.3389/fpsyg.2022.795951.s002
https://figshare.com/articles/dataset/Table_1_Early_Developmental_Trajectories_in_Infants_With_Neurofibromatosis_1_docx/20358138

المؤلفون: Gaia Scerif, Anna Kolesnik-Taylor, Duncan E. Astle, Sinéad O’Brien, Elise Ng-Cordell, Kate Baker

مصطلحات موضوعية: Autism spectrum disorder, Incidence (epidemiology), Family support, Intellectual disability, medicine, Anxiety, Autism, medicine.symptom, DDX3X, medicine.disease, Psychology, Checklist, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9716599ee717335d955be23e0a81ae3a
https://doi.org/10.1101/2021.09.23.21264040

المؤلفون: Joshua J. Ziarek, Manju A. Kurian, Daniel Scott, Rebekah Barrick, Kate Baker, Jasper J. van der Smagt, Anna Kolesnik-Taylor, Jenny Thies, Holly Melland, Lucy Loong, Shelagh Joss, Marjolein H. Willemsen, Fabian Bumbak, Sarah L. Gordon, Abinayah John, Elise Ng-Cordell, R. Pfundt, Christina Fagerberg, Majid Alfadhel, Frances Emslie, Martin Jakob Larsen, Panayiotis Constantinou, Tjitske Kleefstra, Mathilde Nizon, Richard Chang

مصطلحات موضوعية: Sleep disorder, Movement disorders, business.industry, Cognition, medicine.disease, Phenotype, Genotype-phenotype distinction, Neurodevelopmental disorder, Intellectual disability, Medicine, Missense mutation, medicine.symptom, business, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::76a0f613afeeb982a98e243544fa1ede
https://doi.org/10.1101/2021.07.21.21260857