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Alexov, Emil
One or more keywords matched the following items that are connected to Alexov, Emil
Item TypeName
Concept Intellectual Disability
Concept Mental Retardation, X-Linked
Academic Article Computational analysis of missense mutations causing Snyder-Robinson syndrome.
Academic Article A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics.
Academic Article In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase.
Academic Article A rational free energy-based approach to understanding and targeting disease-causing missense mutations.
Academic Article Enhancing human spermine synthase activity by engineered mutations.
Academic Article A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
Academic Article Rational design of small-molecule stabilizers of spermine synthase dimer by virtual screening and free energy-based approach.
Academic Article Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease.
Academic Article Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.
Academic Article Identification and characterization of a missense mutation in the O-linked ?-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.
Academic Article Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Academic Article Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities.
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  • Intellectual Disability