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Diabetologia|April 16, 2010
TRIB3 R84 variant affects glucose homeostasis by altering the interplay between insulin sensitivity and secretionS Prudente, R Baratta, F Andreozzi, et al.Cell Death and Differentiation|January 9, 2010
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagyS Michiorri, V Gelmetti, E Giarda, et al.Nature Genetics|March 4, 2000
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosisV L Ruiz-Perez, S E Ide, T M Strom, et al.Clinical Genetics|September 1, 2017
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndromeM Niceta, K Margiotti, M C Digilio, et al.Circulation|July 25, 2000
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defectsS Giglio, S L Graw, G Gimelli, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 28, 2003
PARK6 is a common cause of familial parkinsonismE M Valente, F Brancati, V Caputo, et al.Neurology|January 28, 2004
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosumC Casali, E M Valente, E Bertini, et al.Epidemiology and Infection|October 14, 2014
Infant botulism due to C. butyricum type E toxin: a novel environmental association with pet terrapinsE B Shelley, D O'Rourke, K Grant, et al.American Journal of Human Genetics|July 1, 1996
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13Y Gong, M Vikkula, L Boon, et al.Molecular Syndromology|May 9, 2013
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 MutationsM Alders, A Mendola, L Adès, et al.Pageof 34