Results 171 to 180 of about 6,371,583 (335)

Research Digest - December 2017 [PDF]

open access: yes, 2017
Division of Public Health Sciences, Department of Surgery, Washington University School of Medicine in St. Louis
core   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach   +11 more
wiley   +1 more source

Research Digest - March 2018 [PDF]

open access: yes, 2018
Division of Public Health Sciences, Department of Surgery, Washington University School of Medicine in St. Louis
core   +1 more source

A Systematic Clinical Framework for Postimplantation Monitoring in Thalamic Neuromodulation: Insights From Twiddler's Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This case described a 25‐year‐old pregnant woman with refractory multifocal epilepsy, diagnosed in 2020 and treated with bilateral thalamic deep brain stimulation (DBS) targeting the centromedian and pulvinar nuclei. Prior to DBS, she experienced daily focal seizures, often progressing to generalized tonic–clonic seizures despite optimal ...
Shalin Shah   +4 more
wiley   +1 more source

Ten-year follow-up of direct interposition graft repair of persistent sciatic artery aneurysm

open access: yesJournal of Vascular Surgery Cases and Innovative Techniques, 2021
Sunil Rajendran, MS, DNB, MRCSEd, ChM Vascular Surgery   +2 more
doaj  

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