المؤلفون: Navdeep Kaur, Catherine Lewis, Sandra Staffieri, Jonathan Ruddle, Ilias Goranitis, Jay Stiles, Gabriel Dabscheck

المصدر: British and Irish Orthoptic Journal, Vol 19, Pp 26–34-26–34 (2023)

مصطلحات موضوعية: orthoptist-led, nf1, optic pathway glioma, cost-analysis, health economics, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://account.bioj-online.com/index.php/wr-j-bioj/article/view/288; https://doaj.org/toc/2516-3590

URL الوصول: https://doaj.org/article/4a75edf05c444c2f8238bbc64701695f

المؤلفون: Anita K. Chisholm, Kristina M. Haebich, Natalie A. Pride, Karin S. Walsh, Francesca Lami, Alex Ure, Tiba Maloof, Amanda Brignell, Melissa Rouel, Yael Granader, Alice Maier, Belinda Barton, Hayley Darke, Gabriel Dabscheck, Vicki A. Anderson, Katrina Williams, Kathryn N. North, Jonathan M. Payne

المصدر: Molecular Autism, Vol 13, Iss 1, Pp 1-17 (2022)

مصطلحات موضوعية: Autism, Autistic behaviours, Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule-Second Edition (ADOS-2), Neurofibromatosis type 1, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2040-2392

URL الوصول: https://doaj.org/article/17d84eaaf919467896a6e3156f7eb969

المؤلفون: Kathryn N North, Marc Seal, Vicki Anderson, Kristina M Haebich, Natalie A Pride, Karin S Walsh, Anita Chisholm, Melissa Rouel, Alice Maier, Tim Silk, Mayuresh Korgaonkar, Francesca Lami, Jennifer Lorenzo, Gabriel Dabscheck, Caroline D Rae, Michael Kean, Jonathan M Payne

المصدر: BMJ Open, Vol 9, Iss 9 (2019)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://bmjopen.bmj.com/content/9/9/e030601.full; https://doaj.org/toc/2044-6055

URL الوصول: https://doaj.org/article/f156e061a20545e2b4fa032ac1b243c7

المؤلفون: Anita L. Dharan, Stephen C. Bowden, Andre Peterson, Alan Lai, Udaya Seneviratne, Gabriel Dabscheck, Ewan Nurse, Amy Loughman, Nicholas Parsons, Wendyl J. D'Souza

المصدر: Epilepsia. 64:742-753

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a6bddb81b66aa061563634782f9b25e7
https://doi.org/10.1111/epi.17505

المؤلفون: Gary Rance, Alice Maier, Julien Zanin, Kristina M. Haebich, Kathryn N. North, Francesca Orsini, Gabriel Dabscheck, Martin B. Delatycki, Jonathan M. Payne

المصدر: Neurological Sciences. 43:5637-5641

مصطلحات موضوعية: Psychiatry and Mental health, Neurology (clinical), Dermatology, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dfb47ebd23fa7b0caf74b02c7b253a68
https://doi.org/10.1007/s10072-022-06203-8

المؤلفون: Anita L Dharan, Stephen C Bowden, Andre Peterson, Alan Lai, Udaya Seneviratne, Gabriel Dabscheck, Ewan Nurse, Amy Loughman, Nicholas Parsons, Wendyl J D'Souza

مصطلحات موضوعية: Clinical sciences not elsewhere classified, Neurosciences not elsewhere classified, electroencephalography, idiopathic generalized epilepsy, neuropsychology

Relation: http://hdl.handle.net/10779/DRO/DU:22130492.v2

الاتاحة: http://hdl.handle.net/10779/DRO/DU:22130492.v2
https://figshare.com/articles/journal_contribution/A_cross-sectional_investigation_of_cognition_and_epileptiform_discharges_in_juvenile_absence_epilepsy/22130492

المؤلفون: Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J. Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K. Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F. Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E. Fisher, David J. Amor, Ingrid E. Scheffer, Melanie Bahlo, Angela T. Morgan

المصدر: Molecular Psychiatry, 28, 4, pp. 1664-1666
Molecular Psychiatry, 28, 1664-1666

مصطلحات موضوعية: Neuroinformatics, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Biophysics, Molecular Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::059b5e06128141f777393c091ff9582e

المؤلفون: Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J. Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K. Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F. Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E. Fisher, David J. Amor, Ingrid E. Scheffer, Melanie Bahlo, Angela T. Morgan

المصدر: Molecular Psychiatry, 28, 4, pp. 1647-1663
Molecular Psychiatry. Advance online publication
Molecular Psychiatry, 28, 1647-1663

مصطلحات موضوعية: Neuroinformatics, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Biophysics, Molecular Biology

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba7abf5251637179712ca43b933ec76d

المؤلفون: Kate Drummond, Andrew P. Morokoff, Gabriel Dabscheck, Jonathan Pesic-Smith, Jordan Jones, Sarah A. Cain, Peter F. M. Choong

المصدر: Journal of Neuro-Oncology. 154:265-274

مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, business.industry, Cancer, Malignant peripheral nerve sheath tumor, Disease, medicine.disease, Malignancy, Malignant transformation, Neurology, Internal medicine, Medicine, Neurology (clinical), Neurofibromatosis, Liquid biopsy, Prospective cohort study, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e9028155467557e21cf8ac6c4c71ad6e
https://doi.org/10.1007/s11060-021-03846-z

المؤلفون: Anita K, Chisholm, Francesca, Lami, Kristina M, Haebich, Alex, Ure, Amanda, Brignell, Tiba, Maloof, Natalie A, Pride, Karin S, Walsh, Alice, Maier, Melissa, Rouel, Yael, Granader, Belinda, Barton, Hayley, Darke, Ian, Fuelscher, Gabriel, Dabscheck, Vicki A, Anderson, Katrina, Williams, Kathryn N, North, Jonathan M, Payne

المصدر: Journal of autism and developmental disorders.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3cfcbe31ec3889e5aa09b6b844a16b68
https://pubmed.ncbi.nlm.nih.gov/35445370

المؤلفون: Anita K. Chisholm, Francesca Lami, Kristina M. Haebich, Alex Ure, Amanda Brignell, Tiba Maloof, Natalie A. Pride, Karin S. Walsh, Alice Maier, Melissa Rouel, Yael Granader, Belinda Barton, Hayley Darke, Ian Fuelscher, Gabriel Dabscheck, Vicki A. Anderson, Katrina Williams, Kathryn N. North, Jonathan M. Payne

مصطلحات موضوعية: sex differences, autistic, age-related differences, children, Developmental and Educational Psychology, autism, neurofibromatosis type 1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbd53242920ca1eac0612b56ac1651b7
https://acuresearchbank.acu.edu.au/item/8ywv4/sex-and-age-related-differences-in-autistic-behaviours-in-children-with-neurofibromatosis-type-1

المؤلفون: Gary Rance, Julien Zanin, Alice Maier, Donella Chisari, Kristina M. Haebich, Kathryn N. North, Gabriel Dabscheck, Marc L. Seal, Martin B. Delatycki, Jonathan M. Payne

المصدر: JAMA Network Open

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Adolescent, Research, General Medicine, Neuropsychological Tests, nervous system diseases, Young Adult, Online Only, Neurology, Case-Control Studies, Evoked Potentials, Auditory, Humans, Female, Child, Hearing Disorders, Original Investigation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83663f5e5f37af1add3484be4ada1791
https://pubmed.ncbi.nlm.nih.gov/34870681

المؤلفون: Jordan, Jones, Sarah, Cain, Jonathan, Pesic-Smith, Peter F M, Choong, Andrew P, Morokoff, Kate J, Drummond, Gabriel, Dabscheck

المصدر: Journal of neuro-oncology. 154(3)

مصطلحات موضوعية: Neurofibromatosis 1, Neurofibrosarcoma, Humans, Prospective Studies, Neoplasm Recurrence, Local, Nerve Sheath Neoplasms, Circulating Tumor DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5dd952e9dd2e0130d5bf7468f137f715
https://pubmed.ncbi.nlm.nih.gov/34529228

المؤلفون: Amy L Schneider, Heather C Mefford, Samuel F. Berkovic, Andrew J. Kornberg, Zornitza Stark, Victoria Rodriguez-Casero, James R Holberton, A. Simon Harvey, Jessica R. Riseley, Mark T Mackay, Ingrid E. Scheffer, John S. Archer, Eppie M. Yiu, Michael C Fahey, Monique M. Ryan, Stefanie Eggers, Flora Y. Wong, Eunice Chan, Gabriel Dabscheck, Richard J. Leventer, Michael Hayman, Simone Mandelstam, Jacinta M McMahon, Katherine B. Howell, Julie Panetta, Lindsay J Smith, Rodney W. Hunt, Jeremy L. Freeman, Susan E Jacobs

المصدر: EpilepsiaREFERENCES. 62(2)

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Victoria, Developmental Disabilities, Population, Epilepsies, Myoclonic, Severity of Illness Index, Cohort Studies, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Dravet syndrome, medicine, Humans, Mortality, education, education.field_of_study, business.industry, Lennox Gastaut Syndrome, Incidence (epidemiology), Incidence, Infant, Newborn, Infant, Electroencephalography, medicine.disease, Hypsarrhythmia, Malformations of Cortical Development, 030104 developmental biology, Neurology, Child, Preschool, Epilepsy syndromes, Etiology, Disease Progression, Anticonvulsants, Female, Neurology (clinical), medicine.symptom, business, Epileptic Syndromes, Spasms, Infantile, 030217 neurology & neurosurgery, Lennox–Gastaut syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b6a7fae7aaea601b3ec585cbae0b81e
https://pubmed.ncbi.nlm.nih.gov/33475165

المؤلفون: Stuart R Dalziel, Gabriel Dabscheck, Mark T Mackay, Robin A. Ray, Franz E Babl, Kerriane Watt, Kate Riney, Jeremy Furyk, Ed. Oakely

المصدر: Seizure. 56:104-109

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Consensus, Community education, Adolescent, Delphi Technique, media_common.quotation_subject, Delphi method, Pediatrics, Young Adult, 03 medical and health sciences, Age Distribution, Status Epilepticus, 0302 clinical medicine, Second line, Surveys and Questionnaires, medicine, Humans, Quality (business), 030212 general & internal medicine, Aged, media_common, Research, Australia, Professional-Patient Relations, General Medicine, Middle Aged, Treatment efficacy, Neurology, Third line, Family medicine, Female, Research questions, Neurology (clinical), Psychology, 030217 neurology & neurosurgery, Paediatric emergency, New Zealand

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::badcaa54733dbe63a5b7939b47e87a29
https://doi.org/10.1016/j.seizure.2018.01.025

المؤلفون: Lee Coleman, Jordan R. Hansford, Andrea D. Rüegger, Natalie McLean, Gabriel Dabscheck

المصدر: Pediatric Neurology. 86:63-65

مصطلحات موضوعية: medicine.medical_specialty, Neurofibromatosis 1, Cord, Adolescent, Spinal Cord Neoplasm, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, 030225 pediatrics, Prevalence, medicine, Medical imaging, Humans, Spinal Cord Neoplasms, Neurofibromatosis, Child, medicine.diagnostic_test, Brain Neoplasms, business.industry, Brain, Magnetic resonance imaging, Spinal cord, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, medicine.anatomical_structure, Spinal cord tumor, Spinal Cord, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), Radiology, business, 030217 neurology & neurosurgery, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d711617680c9160ac223919e4f4da2
https://doi.org/10.1016/j.pediatrneurol.2018.07.005

المؤلفون: Marc L. Seal, Gabriel Dabscheck, Francesca Lami, Belinda Barton, Katrina Williams, Jonathan M. Payne, Karin S. Walsh, Michael Kean, Jennifer Lorenzo, Melissa Rouel, Alice Maier, Kathryn N. North, Caroline Rae, Timothy J. Silk, Natalie A. Pride, Anita K. Chisholm, Kristina M Haebich, Vicki Anderson, Mayuresh S. Korgaonkar

المصدر: BMJ Open

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Adolescent, Autism Spectrum Disorder, Child Behavior, behavioral disciplines and activities, Nervous System, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, Magnetic resonance imaging, Child Development, Cognition, Social cognition, mental disorders, Social functioning, medicine, Protocol, Humans, 0501 psychology and cognitive sciences, Prospective Studies, Autistic Disorder, Child, Social Behavior, business.industry, 05 social sciences, Neuropsychology, Paediatrics, General Medicine, medicine.disease, Child development, Cognitive test, Cross-Sectional Studies, Phenotype, Autism spectrum disorder, Research Design, Child, Preschool, Autism, Female, business, 030217 neurology & neurosurgery, Cohort study, Clinical psychology, Neurofibromatosis type 1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e2ce932142cdd9fabdbdb2a0e5aa7d9
http://europepmc.org/articles/PMC6773330

المؤلفون: Susan M. White, Joy Yaplito-Lee, Marzena Walkiewicz, Cas Simons, Maelle Le Moing, Maria Fuller, Victoria Rodriguez-Casero, Gabriel Dabscheck, Stefanie Eggers, Guy Helman, Lauren E Taylor

المصدر: European Journal of Medical Genetics. 64:104259

مصطلحات موضوعية: 0301 basic medicine, RNA Splicing, 030105 genetics & heredity, Biology, medicine.disease_cause, Compound heterozygosity, Aminopeptidases, DNA sequencing, 03 medical and health sciences, Exon, Neuronal Ceroid-Lipofuscinoses, Genetics, medicine, Humans, Child, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Cells, Cultured, Genetics (clinical), Exome sequencing, Mutation, Tripeptidyl-Peptidase 1, General Medicine, medicine.disease, Exon skipping, 030104 developmental biology, RNA splicing, Female, Neuronal ceroid lipofuscinosis, Serine Proteases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df5d00f1ced856690436c6cd4d9a6640
https://doi.org/10.1016/j.ejmg.2021.104259

المؤلفون: Amy L Schneider, Jeffrey Buchhalter, Sabrina D'Alfonso, Lynette G. Sadleir, John A. Damiano, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Eunice K Chan, Kenneth A. Myers, Luis Bello-Espinosa, Mark F. Bennett, Ingrid E. Scheffer, Gabriel Dabscheck, Michael S. Hildebrand

المصدر: Epilepsy Research. 170:106537

مصطلحات موضوعية: 0301 basic medicine, Bioinformatics, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, CACNA1H, Humans, gamma-Aminobutyric Acid, Exome sequencing, Valproic Acid, biology, business.industry, Odds ratio, medicine.disease, Pathophysiology, 030104 developmental biology, Ethosuximide, Epilepsy, Absence, Pharmaceutical Preparations, Neurology, Pharmacogenomics, biology.protein, Anticonvulsants, lipids (amino acids, peptides, and proteins), Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e635e009bfe0e7e8da32ac444aed2a3a
https://doi.org/10.1016/j.eplepsyres.2020.106537

المؤلفون: Jeremy L. Freeman, A. Simon Harvey, Sarah Barton, Mark T Mackay, Danielle Hulse, Gabriel Dabscheck

المصدر: Epilepsy & Behavior. 106:107005

مصطلحات موضوعية: Male, Parents, Pediatrics, medicine.medical_specialty, Adolescent, Severe epilepsy, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, 0302 clinical medicine, Quality of life, Ambulatory care, Surveys and Questionnaires, Ambulatory Care, medicine, Humans, Neurologists, Pediatricians, 030212 general & internal medicine, Child, Pediatric epilepsy, business.industry, medicine.disease, Comorbidity, humanities, Chronic disorders, Caregivers, Neurology, Ambulatory, Quality of Life, Female, Self Report, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85a89cfefad7575c8e573c36e4cf10ed
https://doi.org/10.1016/j.yebeh.2020.107005