Results 211 to 220 of about 668,141 (363)

myAURA: Personalized health library for epilepsy management via knowledge graph sparsification and visualization [PDF]

open access: yesarXiv
Objective: We report the development of the patient-centered myAURA application and suite of methods designed to aid epilepsy patients, caregivers, and researchers in making decisions about care and self-management. Materials and Methods: myAURA rests on the federation of an unprecedented collection of heterogeneous data resources relevant to ...
arxiv  

CLINICAL STUDIES IN EPILEPSY

open access: bronze, 1925
Donald Fraser
openalex   +1 more source

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu   +10 more
wiley   +1 more source

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa   +3 more
wiley   +1 more source

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