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Cardiogenetics|December 10, 2013
LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotypeJianding Cheng, David W Van Norstrand, Argelia Medeiros-Domingo, et al.
Studies in Health Technology and Informatics|February 1, 2022
The Visible Human ProjectMichael J Ackerman
Information Services & Use|May 23, 2022
The Visible Human ProjectMichael J Ackerman
IEEE Pulse|July 18, 2017
The Visible Human Project: From Body to BitsMichael J Ackerman
Journal of Medical Genetics|March 8, 2017
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1Jamie D Kapplinger, Anders Erickson, Sirisha Asuri, et al.
Cardiovascular Research|September 28, 2007
A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardiaBi-Hua Tan, Pedro Iturralde-Torres, Argelia Medeiros-Domingo, et al.
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