Results 231 to 240 of about 679,276 (278)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Urea transporter evolution: deep conservation, recent adaptation in mammals, and maintenance of the Jka/Jkb polymorphism in the past ~ 110,000 years. [PDF]

Biol Direct
Cagliani R, Pozzoli U, Forni D, Mozzi A, Sironi M.   +4 more
europepmc   +1 more source

Redefining the role of perfusionists in ECMO: from technical operators to clinical stakeholders. [PDF]

J Extra Corpor Technol
Butt SP, Abdulaziz S, Razzaq N, Kumar A, Ashiq F, Darr U, Bhatnagar G.   +6 more
europepmc   +1 more source

Commentary: A systematic review of the effectiveness of psychological interventions in organ transplantation. [PDF]

Front Psychol
Clemens KS.
europepmc   +1 more source

Multi-modal AI in precision medicine: integrating genomics, imaging, and EHR data for clinical insights. [PDF]

Front Artif Intell
Khan SN, Danishuddin, Khan MWA, Guarnera L, Akhtar SMF.   +4 more
europepmc   +1 more source

On Shape Optimization with Large Magnetic Fields in Two Dimensions. [PDF]

J Geom Anal
Lotoreichik V, Morin L.
europepmc   +1 more source

A reference material for X-ray diffraction line profile analysis. [PDF]

J Appl Crystallogr
Scardi P, D'Incau M, Malagutti MA, Terban MW, Hinrichsen B, Fitch AN.   +5 more
europepmc   +1 more source

Integrally Closed Domains

Integrally Closed Domains
openaire