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Acta Ophthalmologica Scandinavica|April 16, 2002
Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?Ekaterini T Tsilou, Benjamin I Rubin, Rafael C Caruso, et al.
Anesthesia and Analgesia|July 18, 2009
Children with infantile neuronal ceroid lipofuscinosis have an increased risk of hypothermia and bradycardia during anesthesiaNing Miao, Sondra W Levin, Eva H Baker, et al.
Ophthalmic Genetics|July 10, 2014
Ocular Phenotype of a Family with FAM161A-associated Retinal DegenerationJacque L Duncan, Pooja Biswas, Igor Kozak, et al.
The Journal of Clinical Endocrinology and Metabolism|January 7, 2011
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistancePenelope P Feuillan, David Ng, Joan C Han, et al.
Investigative Ophthalmology & Visual Science|August 27, 2005
Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutationRadha Ayyagari, Md Nawajes A Mandal, Athanasios J Karoukis, et al.
The Lancet. Neurology|July 7, 2014
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot studySondra W Levin, Eva H Baker, Wadih M Zein, et al.
American Journal of Human Genetics|April 11, 2003
Mutations of MYO6 are associated with recessive deafness, DFNB37Zubair M Ahmed, Robert J Morell, Saima Riazuddin, et al.
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