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Brain Communications|February 10, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformationsMatthew Coleman, Min Wang, Penny Snell, et al.Communications Biology|May 31, 2022
Functional correlates of clinical phenotype and severity in recurrent SCN2A variantsGéza Berecki, Katherine B Howell, Jacqueline Heighway, et al.ACS Nano|March 30, 2016
Cellular Delivery of Nanoparticles Revealed with Combined Optical and Isotopic NanoscopyMaria T Proetto, Christopher R Anderton, Dehong Hu, et al.Nutrition, Metabolism, and Cardiovascular Diseases : NMCD|March 16, 2010
Genetic variation within IL18 is associated with insulin levels, insulin resistance and postprandial measuresM C Smart, G Dedoussis, N Yiannakouris, et al.Nutrition, Metabolism, and Cardiovascular Diseases : NMCD|September 16, 2011
IRS1 gene variants, dysglycaemic metabolic changes and type-2 diabetes riskN Yiannakouris, J A Cooper, S Shah, et al.Archives of Otolaryngology--Head & Neck Surgery|August 1, 1996
A novel organ preservation protocol for advanced carcinoma of the larynx and pharynxK T Robbins, J Fontanesi, F S Wong, et al.Journal of Medical Genetics|December 5, 2006
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease riskS E Humphries, R A Whittall, C S Hubbart, et al.Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, et al.Epilepsia Open|May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityTrupti Jadhav, Sophie E Bouffler, Emily Innes, et al.Brain : a Journal of Neurology|August 21, 2016
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasiaJijun Wan, Janos Steffen, Michael Yourshaw, et al.Pageof 102