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Journal of Medical Genetics|August 4, 2010
Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4John F Staropoli, Winnie Xin, Katherine B SimsJournal of Child and Adolescent Psychopharmacology|August 12, 2005
Risperidone-induced psychosis and depression in a child with a mitochondrial disorderMary S Ahn, Katherine B Sims, Jean A FrazierCurrent Neurology and Neuroscience Reports|June 19, 2013
Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrumSusan L Cotman, Amel Karaa, John F Staropoli, et al.BMC Medical Genetics|June 26, 2012
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutationJohn F Staropoli, Winnie Xin, Rosemary Barone, et al.Journal of Immunology Research|October 14, 2014
Powering the immune system: mitochondria in immune function and deficiencyMelissa A Walker, Stefano Volpi, Katherine B Sims, et al.American Journal of Medical Genetics. Part A|July 13, 2012
Norrie disease: extraocular clinical manifestations in 56 patientsSharon E Smith, Thomas E Mullen, Dionne Graham, et al.The Neurologist|June 28, 2016
Mitochondrial Encephalopathy and Optic Neuropathy Due to m.10158 MT-ND3 Complex I Mutation Presenting in an Adult Patient: Case Report and Review of the LiteratureIvana Vodopivec, Tracey A Cho, Joseph F Rizzo, et al.The Journal of Biological Chemistry|March 10, 2015
Activation of peroxisome proliferator-activated receptor α induces lysosomal biogenesis in brain cells: implications for lysosomal storage disordersArunava Ghosh, Malabendu Jana, Khushbu Modi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2008
Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzymeDavid Bodensteiner, C Ronald Scott, Katherine B Sims, et al.BMC Medical Genetics|March 8, 2014
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiencyDaniel S Lieber, Steven G Hershman, Nancy G Slate, et al.Pageof 4