المؤلفون: David A. Mackey, Jue-Sheng Ong, Stuart MacGregor, David C. Whiteman, Jamie E. Craig, M. Isabel G. Lopez Sanchez, Lisa S. Kearns, Sandra E. Staffieri, Linda Clarke, Myra B. McGuinness, Wafaa Meteoukki, Sona Samuel, Jonathan B. Ruddle, Celia Chen, Clare L. Fraser, John Harrison, Neil Howell, Alex W. Hewitt

المصدر: The American Journal of Human Genetics. 110:170-176

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::233db0aa56bf36ddbb68c23424a859dd
https://doi.org/10.1016/j.ajhg.2022.11.014

المؤلفون: Clare L. Fraser, Sona Samuel, Sandra E Staffieri, M Isabel G Lopez Sanchez, Alex W. Hewitt, Celia S. Chen, Neil Howell, David A. Mackey, Lisa S. Kearns, Myra B McGuinness, Wafaa Meteoukki, Linda Clarke, John D Harrison, Jonathan B Ruddle

المصدر: American Journal of Human Genetics

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, Adolescent, genetic structures, Genetic counseling, Vision Disorders, Pedigree chart, Optic Atrophy, Hereditary, Leber, Article, LHON, Young Adult, Epidemiology, Prevalence, Genetics, medicine, Humans, optic atrophy, penetrance, Young adult, Genetics (clinical), risk, Aged, Genetic testing, genetic counseling, medicine.diagnostic_test, business.industry, vision loss, Incidence (epidemiology), Australia, nutritional and metabolic diseases, Middle Aged, Penetrance, eye diseases, mitochondria, epidemiology, Female, business, Asymptomatic carrier, blindness

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a7b20db72bd78ed1a59e8cabd682473
https://doi.org/10.1016/j.ajhg.2021.09.015

المؤلفون: Joanna L. Elson, Neil Howell, Ilse S. Pienaar

المصدر: Mitochondrion. 34:141-146

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Lineage (genetic), Mutation, Missense, B100, Disease, Biology, DNA, Mitochondrial, Haplogroup, 03 medical and health sciences, Data sequences, Mutation Rate, Alzheimer Disease, Humans, Molecular Biology, Genetic Association Studies, Aged, Genetic association, Genetics, Cell Biology, Middle Aged, Pathogenicity, United Kingdom, United States, 030104 developmental biology, Molecular Medicine, Load analysis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7de3741d9cdbbff1688ce6e5546d03
https://doi.org/10.1016/j.mito.2017.04.002

المؤلفون: Victoria Strassheim, Joanna L. Elson, Cara Tomas, Marianne Venter, Julia L. Newton, Neil Howell, Ilse S. Pienaar, Elardus Erasmus, Francois H. van der Westhuizen, Wan-Fai Ng

المساهمون: 20196946 - Venter, Marianne, 10213503 - Van der Westhuizen, Francois Hendrikus, 24952338 - Elson, Joanna L., 10066136 - Erasmus, Elardus

المصدر: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Cimicifuga, Mitochondrial DNA, Genotype, Mitochondrial disease, Encephalomyelitis, Population, lcsh:Medicine, DNA, Mitochondrial, Article, South Africa, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Population Groups, Chronic fatigue syndrome, medicine, Humans, Gene Regulatory Networks, lcsh:Science, education, Allele frequency, Genetic association study, education.field_of_study, Fatigue Syndrome, Chronic, Polymorphism, Genetic, Multidisciplinary, business.industry, lcsh:R, Haplotype, virus diseases, Rare variants, medicine.disease, United Kingdom, Phenotype, 030104 developmental biology, Haplotypes, Mutation, Immunology, Disease Progression, lcsh:Q, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbb2448b2681d35d6405aeea9ec52c1a
https://doi.org/10.1038/s41598-019-39060-1

المؤلفون: Hoong Sern Lim, Neil Howell

المصدر: Shock (Augusta, Ga.). 50(2)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, medicine.medical_treatment, Shock, Cardiogenic, 030204 cardiovascular system & hematology, Critical Care and Intensive Care Medicine, 03 medical and health sciences, 0302 clinical medicine, Extracorporeal Membrane Oxygenation, Internal medicine, medicine, Extracorporeal membrane oxygenation, Humans, cardiovascular diseases, 030212 general & internal medicine, Myocardial infarction, Acid-Base Equilibrium, Heart Failure, business.industry, Cardiogenic shock, Stroke Volume, Stroke volume, Carbon Dioxide, Middle Aged, medicine.disease, Oxygen, medicine.anatomical_structure, Heart failure, Shock (circulatory), Circulatory system, Emergency Medicine, Cardiology, Vascular resistance, Female, Vascular Resistance, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21cd4e707ff42c057b5ececb7a9c0f32
https://pubmed.ncbi.nlm.nih.gov/29112104

المؤلفون: Samer A.M. Nashef, Neil Howell, Aravinda Page, Yasir Abu-Omar, Shakil Farid, Martin Goddard, David P. Jenkins

المصدر: Asian Cardiovascular and Thoracic Annals. 23:535-542

مصطلحات موضوعية: Male, Pulmonary and Respiratory Medicine, Aortic valve, Logistic euroscore, medicine.medical_specialty, Autopsy, Postoperative Complications, Aortic valve replacement, Internal medicine, medicine, Humans, Single institution, Aged, Retrospective Studies, Aged, 80 and over, Heart Valve Prosthesis Implantation, business.industry, Incidence (epidemiology), Coronary Stenosis, Aortic Valve Stenosis, General Medicine, medicine.disease, medicine.anatomical_structure, Aortic Valve, Heart Valve Prosthesis, Concomitant, Cardiology, Female, Surgery, Cardiology and Cardiovascular Medicine, Complication, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::beb544e38c0b7303996f54767e4997b9
https://doi.org/10.1177/0218492315573105

المؤلفون: Neil Howell, Walter H. Moos, Dana Nohynek, James A. Dykens, Evelina Rubinchik

المصدر: Drug Development Research. 70:1-21

مصطلحات موضوعية: Parkinson's disease, medicine.drug_class, business.industry, Women's Health Initiative, medicine.medical_treatment, Hormone replacement therapy (menopause), Disease, Pharmacology, medicine.disease, Neuroprotection, Estrogen, Drug Discovery, medicine, Adverse effect, business, hormones, hormone substitutes, and hormone antagonists, Hormone

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4233b81eceec4fc535fbae445fd21ab6
https://doi.org/10.1002/ddr.20284

المؤلفون: Patrick Yu Wai Man, Joanna L. Elson, Valerio Carelli, Chiara La Morgia, Gavin Hudson, Maria Lucia Valentino, Patrick F. Chinnery, Liesbeth Spruijt, Kirsi Huoponen, Alessandro Achilli, Neil Howell, Catherine Mowbray, Massimo Zeviani, Angela Pyle, Philip G. Griffiths, Rita Horvath, Eeva Nikoskelainen, Mike Gerards, Marja-Liisa Savontaus, René de Coo, Antonio Torroni, Solange Rios Salomão, Hubert J T Smeets, Rubens Belfort, Alfredo A. Sadun

المساهمون: Hudson G., Carelli V., Spruijt L., Gerards M., Mowbray C., Achilli A., Pyle A., Elson J., Howell N., La Morgia C., Valentino M.L., Huoponen K., Savontaus M.L., Nikoskelainen E., Sadun A.A., Salomao S.R., Belfort R. Jr, Griffiths P., Man P.Y., de Coo R.F., Horvath R., Zeviani M., Smeets H.J., Torroni A., Chinnery P.F., Neurology

المصدر: American Journal of Human Genetics, 81, 2, pp. 228-33
American Journal of Human Genetics, 81(2), 228-233. Cell Press
American Journal of Human Genetics, 81, 228-33

مصطلحات موضوعية: Male, genetic structures, Penetrance, Blindness, medicine.disease_cause, Haplogroup, 0302 clinical medicine, Gene Frequency, Risk Factors, Genetics(clinical), Genetics (clinical), Genetics, Adult, Female, Humans, Mutation, Optic Atrophy, Hereditary, Leber, Sex Factors, DNA, Mitochondrial, Genetic Variation, Haplotypes, Leber, 0303 health sciences, mtDNA, Mitochondrial, Hereditary, Mitochondrial DNA, Age-related aspects of cancer [ONCOL 2], Biology, Article, LHON, 03 medical and health sciences, Genetic variation, medicine, Allele frequency, 030304 developmental biology, Hereditary cancer and cancer-related syndromes [ONCOL 1], Haplotype, DNA, medicine.disease, eye diseases, Optic Atrophy, Genetic defects of metabolism [UMCN 5.1], Mitochondrial optic neuropathies, 030217 neurology & neurosurgery

وصف الملف: STAMPA; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e91464f563b95f3561c2f7ca6a0ebd
https://doi.org/10.1086/519394

المؤلفون: David P. Dimasi, David A. Mackey, Carmel Toomes, Amy C Cohn, Neil Howell, Jamie E Craig, Alex W. Hewitt

المصدر: British Journal of Ophthalmology. 90:1420-1424

مصطلحات موضوعية: Adult, Male, Heterozygote, medicine.medical_specialty, Intraocular pressure, Adolescent, genetic structures, Open angle glaucoma, DNA Mutational Analysis, Glaucoma, Cell Cycle Proteins, Optic Atrophy, Hereditary, Leber, DNA, Mitochondrial, Optic neuropathy, Cellular and Molecular Neuroscience, Gene Frequency, Transcription Factor TFIIIA, Ophthalmology, Normal tension glaucoma, Optic Atrophy, Autosomal Dominant, Optic Nerve Diseases, medicine, Humans, Laboratory Science - Extended Report, Child, Allele frequency, Alleles, Optineurin, Chi-Square Distribution, business.industry, Membrane Transport Proteins, medicine.disease, eye diseases, Sensory Systems, Pedigree, Case-Control Studies, Mutation, Optic nerve, Female, sense organs, business, Glaucoma, Open-Angle

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::603054a5055a134776c00ab2e664fb16
https://doi.org/10.1136/bjo.2006.099333

المؤلفون: David Saunders, Jayne Poynter, Joanna L. Elson, Watcharee Tiangyou, Sharon Keers, Douglass M. Turnbull, Patrick F. Chinnery, Neil Howell, Angela Pyle, Simon Baudouin

المصدر: The Lancet. 366:2118-2121

مصطلحات موضوعية: Male, medicine.medical_specialty, Mitochondrial DNA, Haplogroup H, Biology, DNA, Mitochondrial, Haplogroup, law.invention, Sepsis, law, Internal medicine, medicine, Humans, Prospective Studies, APACHE, Aged, Genetics, Haplotype, Case-control study, General Medicine, Middle Aged, medicine.disease, Intensive care unit, Intensive Care Units, Logistic Models, Haplotypes, Case-Control Studies, Bacteremia, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6320eac8fe04898e823e8a71cb3f316d
https://doi.org/10.1016/s0140-6736(05)67890-7