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Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases|September 18, 2003
A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathyKourosh Rezania, Jianhua Yan, Lisa Dellefave, et al.Circulation. Cardiovascular Genetics|September 3, 2014
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathyJessica R Golbus, Megan J Puckelwartz, Lisa Dellefave-Castillo, et al.Frontiers in Genetics|January 22, 2025
Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvementKerstin Hundal, Courtney L Scherr, Hoda Fakhari, et al.Journal of Neuropathology and Experimental Neurology|August 28, 2004
Neuronal ubiquitinated intranuclear inclusions in familial and non-familial frontotemporal dementia of the motor neuron disease type associated with amyotrophic lateral sclerosisEileen H Bigio, Nancy A Johnson, Alfred W Rademaker, et al.Circulation. Heart Failure|September 30, 2020
Altered Enhancer and Promoter Usage Leads to Differential Gene Expression in the Normal and Failed Human HeartAnthony M Gacita, Lisa Dellefave-Castillo, Patrick G T Page, et al.Journal of the American Heart Association|December 22, 2021
Genotype and Cardiac Outcomes in Pediatric Dilated CardiomyopathyRabia S Khan, Elfriede Pahl, Lisa Dellefave-Castillo, et al.Bioinformatics (Oxford, England)|February 15, 2014
Supercomputing for the parallelization of whole genome analysisMegan J Puckelwartz, Lorenzo L Pesce, Viswateja Nelakuditi, et al.Plos One|December 24, 2010
Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutationStephanie K Mewborn, Megan J Puckelwartz, Fida Abuisneineh, et al.Neurogenetics|May 5, 2006
Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM geneAsma Gul, Muhammad Jawad Hassan, Saqib Mahmood, et al.Circulation|August 6, 2017
Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated CardiomyopathyDavid Y Barefield, Megan J Puckelwartz, Ellis Y Kim, et al.Pageof 3