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Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte   +13 more
wiley   +1 more source

Kurt-Semm-Center of minimally invasive and robot-assisted surgery: Over 10 years of an interdisciplinary and interprofessional project in clinical application, research and training. [PDF]

open access: yesJ Robot Surg
Alkatout I   +21 more
europepmc   +1 more source

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