Showing results (11-20 of 32) with videos related to

Sort By:
Pageof 4
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.
Brain Pathology (Zurich, Switzerland)|April 22, 2008
Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observationsStefanie H Freeman, Bradley T Hyman, Katherine B Sims, et al.
The American Journal of Medicine|September 26, 2017
Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic CardiomyopathyMartin S Maron, Winnie Xin, Katherine B Sims, et al.
BMC Neurology|May 31, 2011
Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panelAlessandro P Burlina, Katherine B Sims, Juan M Politei, et al.
Molecular & Cellular Proteomics : MCP|April 23, 2009
Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiologyDavid E Sleat, Lin Ding, Shudan Wang, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 19, 2010
A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cellsOded Shaham, Nancy G Slate, Olga Goldberger, et al.
Journal of Proteome Research|August 10, 2017
Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential BiomarkersDavid E Sleat, Abla Tannous, Istvan Sohar, et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|February 2, 2012
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experienceJeffrey A Brown, Jionghong Min, John F Staropoli, et al.
Coronary Artery Disease|December 19, 2006
Myocardial blood flow and oxygen consumption in patients with Friedreich's ataxia prior to the onset of cardiomyopathyShawn A Gregory, Calum A MacRae, Kusai Aziz, et al.
Angiogenesis|November 13, 2012
Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stressShuping Li, Jinghao Sheng, Jamie K Hu, et al.
Pageof 4