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1
المؤلفون: Stephanie Parkinson, Maina P. Kava, Cara Schofield, Donna Cross, Klair Bayley, Peter Jacoby, Odette Gaynor, Jenny Downs, Damian Clark, Susan Morris, Kerry Evans, Anita Cairns, Monique M. Ryan, Linda Chiu, Nitamarie Vorster, Aris Siafarikas
المصدر: Journal of Paediatrics and Child Health. 56:1419-1425
مصطلحات موضوعية: Parents, medicine.medical_specialty, Adolescent, Duchenne muscular dystrophy, Walking, Personal Adjustment, 03 medical and health sciences, 0302 clinical medicine, Wheelchair, 030225 pediatrics, Intervention (counseling), medicine, Humans, 030212 general & internal medicine, Child, business.industry, medicine.disease, Mental health, Confidence interval, Muscular Dystrophy, Duchenne, medicine.anatomical_structure, Wheelchairs, Joint pain, Standing Position, Pediatrics, Perinatology and Child Health, Physical therapy, medicine.symptom, Ankle, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e3d558be118fd7c1119d26c44730e2cTest
https://doi.org/10.1111/jpc.14963Test -
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المؤلفون: Sophie Calvert, Richard Webster, Heather E. Olson, Simone Mandelstam, Mark T Mackay, Ingrid E. Scheffer, Annapurna Poduri, Katherine B. Howell, Gemma L. Carvill, Dimira Tambunan, Victoria Rodriguez-Casero, A. Simon Harvey, Jeremy L. Freeman, Damian Clark, Jacinta M McMahon, Heather C Mefford
المصدر: Neurology. 85:958-966
مصطلحات موضوعية: Male, Phenytoin, Pediatrics, medicine.medical_specialty, Ohtahara syndrome, Movement disorders, Adolescent, Encephalopathy, Article, Young Adult, Epilepsy, Sodium channel blocker, Dravet syndrome, Seizures, medicine, Humans, Genetic Predisposition to Disease, Ictal, Child, Brain Diseases, NAV1.2 Voltage-Gated Sodium Channel, business.industry, Infant, Electroencephalography, medicine.disease, Phenotype, Child, Preschool, Anesthesia, Mutation, Female, Epilepsies, Partial, Neurology (clinical), medicine.symptom, business, Spasms, Infantile, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e39af59041d5871d87918b6d8ff2b7caTest
https://doi.org/10.1212/wnl.0000000000001926Test -
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المؤلفون: Sue Brown, S. Yu, Suzanna C. Thompson, Christopher Barnett, Eric Haan, Jan Liebelt, Lesley M McGregor, Elizabeth Thompson, Kathryn Friend, Sharon M. Bain, Jillian Nicholl, Wendy Waters, Shanna Suwalski, Yvonne Hull, Damian Clark, Claire Pridmore, John Entwistle, Michael G. Harbord, John C. Mulley
المصدر: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 162:24-35
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Genetic Counseling, Young Adult, Cellular and Molecular Neuroscience, Epilepsy, Chromosome Duplication, mental disorders, Intellectual disability, Humans, Medicine, Genetic Predisposition to Disease, Clinical significance, Copy-number variation, Patient group, Child, Genetics (clinical), Cognitive deficit, Aged, Genetics, Comparative Genomic Hybridization, Incidental Findings, business.industry, Infant, Middle Aged, medicine.disease, Psychiatry and Mental health, Child Development Disorders, Pervasive, Child, Preschool, Autism, Female, Chromosome Deletion, medicine.symptom, Cognition Disorders, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8c1ac52a6209262e39f35833184568Test
https://doi.org/10.1002/ajmg.b.32114Test -
4
المؤلفون: Shamima Rahman, Kaustuv Bhattacharya, David R. Thorburn, Matthew Pitt, John Christodoulou, Monique M. Ryan, Yehani Wedatilake, Tyson L Ware, Manoj P. Menezes, Robert A. Ouvrier, Damian Clark, Michelle A. Farrar, Hugo Sampaio, Carolyn Ellaway
المصدر: Mitochondrion. 30
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, Mitochondrial disease, Neural Conduction, Tertiary Care Centers, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, SURF1, Prospective Studies, Child, Molecular Biology, Genetic testing, Retrospective Studies, medicine.diagnostic_test, business.industry, Chronic pain, Infant, Newborn, Infant, Peripheral Nervous System Diseases, Cell Biology, medicine.disease, Pyruvate dehydrogenase deficiency, 030104 developmental biology, Peripheral neuropathy, Lactic acidosis, Child, Preschool, Molecular Medicine, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73faba5c5e2bcb167b0568d9fc8e9072Test
https://pubmed.ncbi.nlm.nih.gov/27475922Test -
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المؤلفون: Damian Clark, S. Yu, David R. Thorburn, Jillian Nicholl, Alexandra Jolley, Nicholas Manton, Drago Bratkovic, Dylan A. Mordaunt, Alison G. Compton, Hayley S. Mountford, Shanti Balasubramaniam, Kathryn Friend
المصدر: American journal of medical genetics. Part A. 167(6)
مصطلحات موضوعية: Mitochondrial encephalomyopathy, Adult, Male, Mitochondrial DNA, Mitochondrial Diseases, BCS1L, Adolescent, Genotype, Nonsense mutation, Biology, Retina, Mitochondrial Proteins, Consanguinity, Electron Transport Complex III, Mitochondrial Encephalomyopathies, Genetics, medicine, Humans, Language Development Disorders, Child, Genetics (clinical), Homozygote, Genetic Variation, Infant, Membrane Proteins, medicine.disease, Mitochondrial respiratory chain complex III, Failure to Thrive, Mitochondria, Pedigree, Phenotype, Codon, Nonsense, Failure to thrive, Disease Progression, Female, medicine.symptom, SNP array
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8573c3338ce73fa6d24c03be9a196a68Test
https://pubmed.ncbi.nlm.nih.gov/25899669Test -
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المؤلفون: Katherine B, Howell, Andrew J, Kornberg, A Simon, Harvey, Monique M, Ryan, Mark T, Mackay, Jeremy L, Freeman, M Victoria, Rodriguez Casero, Kevin J, Collins, Michael, Hayman, Ahmad, Mohamed, Tyson L, Ware, Damian, Clark, Damien L, Bruno, Trent, Burgess, Howard, Slater, George, McGillivray, Richard J, Leventer
المصدر: Journal of paediatrics and child health. 49(9)
مصطلحات موضوعية: Phenotype, DNA Copy Number Variations, Child, Preschool, Homozygote, Infant, Newborn, Humans, Infant, Genetic Predisposition to Disease, Prospective Studies, Nervous System Diseases, Child, Polymorphism, Single Nucleotide, Oligonucleotide Array Sequence Analysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::06c949922f64274e131bd71cbbc24736Test
https://pubmed.ncbi.nlm.nih.gov/23731025Test -
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المؤلفون: Damian Clark, J. Livingstone, Lisa Astle, Fergal Monsell
المصدر: Journal of orthopaedic trauma. 23(10)
مصطلحات موضوعية: medicine.medical_specialty, Humeral Fractures, Brachial Artery, Decompression, medicine.medical_treatment, Arteriotomy, Fixation (surgical), medicine.artery, medicine, Edema, Humans, Orthopedics and Sports Medicine, Aponeurosis, Brachial artery, Bicipital aponeurosis, Child, business.industry, General Medicine, Decompression, Surgical, Surgery, body regions, medicine.anatomical_structure, Treatment Outcome, Orthopedic surgery, Female, business, Artery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d223cc1c7fba926120a2c388f85a632Test
https://pubmed.ncbi.nlm.nih.gov/19858982Test