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The Journal of Pediatrics|December 1, 1992
Fatal infantile liver failure associated with mitochondrial DNA depletionM R Mazziotta, E Ricci, E Bertini, et al.Clinical Genetics|April 11, 2016
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxiaS Barresi, M Niceta, P Alfieri, et al.Neuromuscular Disorders : NMD|January 24, 2007
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locusL Hartley, M Kinali, R Knight, et al.Brain : a Journal of Neurology|May 29, 2000
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European familiesF Picard, S Baulac, P Kahane, et al.Annals of Neurology|April 1, 1994
Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions geneA Malafosse, C Beck, H Bellet, et al.Mbio|February 25, 2016
Host-Primed Ebola Virus GP Exposes a Hydrophobic NPC1 Receptor-Binding Pocket, Revealing a Target for Broadly Neutralizing AntibodiesZachary A Bornholdt, Esther Ndungo, Marnie L Fusco, et al.Cell Death and Differentiation|July 23, 2016
Autophagy regulates satellite cell ability to regenerate normal and dystrophic musclesE Fiacco, F Castagnetti, V Bianconi, et al.American Journal of Medical Genetics|April 1, 1992
Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infectionsE Bertini, R Cusmai, G de Saint Basile, et al.Neuromuscular Disorders : NMD|June 18, 2005
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genesA D'Amico, G Haliloglu, P Richard, et al.Health and Quality of Life Outcomes|November 1, 2006
Gynecologic oncology patients' satisfaction and symptom severity during palliative chemotherapyVivian E von Gruenigen, Jessica R Hutchins, Anne Marie Reidy, et al.Pageof 29