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1دورية أكاديمية
المؤلفون: Mathew Wallis, Simon D. Bodek, Jacob Munro, Haloom Rafehi, Mark F. Bennett, Zimeng Ye, Amy Schneider, Fiona Gardiner, Giulia Valente, Emma Murdoch, Eloise Uebergang, Jacquie Hunter, Chloe Stutterd, Aamira Huq, Lucinda Salmon, Ingrid Scheffer, Dhamidhu Eratne, Stephen Meyn, Chun Y. Fong, Tom John, Saul Mullen, Susan M. White, Natasha J. Brown, George McGillivray, Jesse Chen, Chris Richmond, Andrew Hughes, Emma Krzesinski, Andrew Fennell, Brian Chambers, Renee Santoreneos, Anna Le Fevre, Michael S. Hildebrand, Melanie Bahlo, John Christodoulou, Martin Delatycki, Samuel F. Berkovic
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
مصطلحات موضوعية: Rare disease, Genome sequencing, Mosaicism, Genotype, Phenotype, Undiagnosed disease, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Valentina Baderna, Joshua Schultz, Lisa S. Kearns, Michael Fahey, Bryony A. Thompson, Jonathan B. Ruddle, Aamira Huq, Francesca Maltecca
المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-8 (2020)
مصطلحات موضوعية: AFG3L2, OPA1, Optic atrophy, Mitochondrial fragmentation, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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المؤلفون: Alexis Ceecee Britten-Jones, Sena A. Gocuk, Kai Lyn Goh, Aamira Huq, Thomas L. Edwards, Lauren N. Ayton
المصدر: American Journal of Ophthalmology. 249:57-73
مصطلحات موضوعية: Ophthalmology
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المؤلفون: Peter D. Fransquet, Paul Lacaze, Colin L. Masters, Ingrid Winship, Joanne Ryan, Robert Sebra, Aamira Huq, Paul A. James, Simon M. Laws
المصدر: Alzheimer's & Dementia. 15:1612-1623
مصطلحات موضوعية: 0301 basic medicine, Apolipoprotein E, Epidemiology, Apolipoprotein E4, Population, Single-nucleotide polymorphism, Disease, medicine.disease_cause, Polymorphism, Single Nucleotide, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Developmental Neuroscience, Alzheimer Disease, Risk Factors, Genotype, Heredity, Humans, Medicine, Allele, education, Alleles, Genetics, education.field_of_study, business.industry, Health Policy, Homozygote, Protective Factors, Psychiatry and Mental health, 030104 developmental biology, Meta-analysis, Neurology (clinical), Geriatrics and Gerontology, business, 030217 neurology & neurosurgery
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المؤلفون: Amy Brodtmann, Aamira Huq
المصدر: Neurology: Genetics
article-version (Version of Record) 3مصطلحات موضوعية: Genetics, biology, Dementia with Lewy bodies, business.industry, Disease, medicine.disease, Editorial, mental disorders, medicine, Amyloid precursor protein, biology.protein, Missense mutation, Dementia, Neurology (clinical), Cerebral amyloid angiopathy, business, Gene, Genetics (clinical), Function (biology)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c92d28951cbe2bfe3f82727629d7a81
http://europepmc.org/articles/PMC8428014 -
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المؤلفون: Elsdon Storey, Paul Lacaze, Adrienne Sexton, Aamira Huq, Colin L. Masters, Dennis Velakoulis, Paul A. James, Ingrid Winship
المصدر: International Journal of Geriatric Psychiatry.
مصطلحات موضوعية: medicine.medical_specialty, Genetics, Medical, Genetic counseling, 03 medical and health sciences, 0302 clinical medicine, Alzheimer Disease, mental disorders, Humans, Medicine, Dementia, Genetic Testing, Vascular dementia, Intensive care medicine, Aged, Genetic testing, 030214 geriatrics, medicine.diagnostic_test, business.industry, Dementia with Lewy bodies, Dementia, Vascular, medicine.disease, Psychiatry and Mental health, Frontotemporal Dementia, Medical genetics, Geriatrics and Gerontology, Alzheimer's disease, business, Frontotemporal dementia
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المؤلفون: Aamira Huq, Paul A. James, John J McNeil, Lei Zhang, Danny Liew, Paul Lacaze, Mark Nelson, Xun Zhuang, David J. Amor, Moeen Riaz, Ingrid Winship, Jane Tiller, Yining Bao, Lara Petelin
المصدر: Obstetrical & Gynecological Survey. 75:91-93
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, education.field_of_study, 030219 obstetrics & reproductive medicine, business.industry, Genetic counseling, Population, Psychological intervention, Obstetrics and Gynecology, General Medicine, Cost-effectiveness analysis, Disease, medicine.disease, Fragile X syndrome, 03 medical and health sciences, 0302 clinical medicine, Health care, Medicine, 030212 general & internal medicine, Young adult, business, education, health care economics and organizations
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5e3f464563577e15bf1f017c45114454
https://doi.org/10.1097/01.ogx.0000654116.18244.8f -
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المؤلفون: John McNeil, Robert Sebra, Ingrid Winship, Paul A. James, Alan E. Renton, Brian Fulton-Howard, Elsdon Storey, Moeen Riaz, Joanne Ryan, Anne Murray, Alison Goate, Simon M. Laws, Colin L. Masters, Raj C. Shah, Paul Lacaze, Aamira Huq
المصدر: Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 13, Iss 1, Pp n/a-n/a (2021)
مصطلحات موضوعية: Oncology, Apolipoprotein E, medicine.medical_specialty, Alzheimer's disease dementia, Genome-wide association study, Disease, Internal medicine, Genotype, medicine, Dementia, Allele, RC346-429, apolipoprotein E, dementia resilience, business.industry, RC952-954.6, Odds ratio, Alzheimer's disease, genetic modifiers, medicine.disease, Confidence interval, Psychiatry and Mental health, Geriatrics, polygenic risk score, Neurology. Diseases of the nervous system, Neurology (clinical), business
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المؤلفون: Maie Walsh, Joshua Schultz, Sebastian Lunke, Paul A. James, Tianxin Pan, Zornitza Stark, Ilias Goranitis, Zanfina Ademi, Anna Jarmolowicz, Mathew Wallis, Dennis Velakoulis, Belinda Creighton, Aamira Huq, Michael C Fahey, Kirsty West, Dean Phelan, Yael Prawer, J. Taylor, Martin B. Delatycki, Melanie O'Keefe, Amy L Schneider, Clara Gaff, Ella Lynch, Yana Smagarinsky, Haloom Rafehi, Eloise Uebergang, Dhamidhu Eratne, Rebecca Purvis, Heather Chalinor, Chloe A Stutterd, Emma I. Krzesinski, Melissa Martyn, Kirby Siemering, Patrick Kwan, Samuel F. Berkovic, Nikki Gelfand, Belinda Chong, Tamar Saks, Melanie Bahlo, Richard J. Leventer, Adrienne Sexton
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Ataxia, Adolescent, Neurogenetics, Disease, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Dementia, Humans, Exome, 030212 general & internal medicine, Genetic Testing, Prospective Studies, Child, Exome sequencing, Genetic testing, 1103 Clinical Sciences, 1109 Neurosciences, Aged, Neurology & Neurosurgery, medicine.diagnostic_test, business.industry, Australia, Computational Biology, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Phenotype, Neurology, Medical genetics, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: Print-Electronic; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7036dfbb78e1ed249f7d35d0651934a7
https://hdl.handle.net/10453/154663 -
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المؤلفون: Raj C. Shah, Anne M. Murray, Eric E. Schadt, Robert Sebra, John J McNeil, Jessica E. Lockery, Joanne Ryan, Moeen Riaz, Suzanne G Orchard, Robyn L. Woods, Alan E. Renton, Paul Lacaze, Elsdon Storey, Rory Wolfe, Alison Goate, Aamira Huq, Jane Tiller, Amy Brodtmann
مصطلحات موضوعية: Psychomotor learning, Apolipoprotein E, education.field_of_study, business.industry, Population, Cognition, medicine.disease, Relative risk, medicine, Dementia, Cumulative incidence, Cognitive decline, education, business, Demography
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c675210f40336a44b256138f99f3828d
https://doi.org/10.1101/2020.10.11.20210963