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JIMD Reports|December 18, 2017
Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse MyelitisC Bursle, K Riney, J Stringer, et al.JIMD Reports|June 26, 2015
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?D Coman, P Lewindon, P Clayton, et al.JIMD Reports|November 11, 2017
Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac TransplantationC Bursle, R Weintraub, C Ward, et al.JIMD Reports|August 3, 2016
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype ExpansionC Bursle, D Brown, J Cardinal, et al.Case Reports in Genetics|November 14, 2018
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney SyndromeL Swan, G Gole, V Sabesan, et al.JIMD Reports|November 6, 2016
COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial NephritisC Bursle, A Narendra, R Chuk, et al.The British Journal of Ophthalmology|May 12, 2009
RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian populationJ B Ruddle, N D Ebenezer, L S Kearns, et al.Eye (London, England)|April 16, 2011
Distribution of conjunctival ultraviolet autofluorescence in a population-based study: the Norfolk Island Eye StudyJ C Sherwin, A W Hewitt, L S Kearns, et al.The British Journal of Ophthalmology|July 26, 2008
The natural history of OPA1-related autosomal dominant optic atrophyA C Cohn, C Toomes, A W Hewitt, et al.Ophthalmic Epidemiology|December 29, 2007
The association between maternal smoking in pregnancy, other early life characteristics and childhood vision: the Twins Eye Study in TasmaniaA L Ponsonby, S A Brown, L S Kearns, et al.Pageof 352