Results 161 to 170 of about 909,061 (302)

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

Seeing Beyond the Microscope: Artificial Intelligence and Fluorescence Confocal Digital Imaging in Pediatric Surgical Pathology. [PDF]

open access: yesChildren (Basel)
Di Fabrizio D   +8 more
europepmc   +1 more source

Surgical Pathology Diagnostic Pitfalls of Hepatoblastoma. [PDF]

open access: yesInt J Surg Pathol, 2022
Morgan Auld F, Sergi CM.
europepmc   +1 more source

Deep Learning–Assisted Differentiation of Four Peripheral Neuropathies Using Corneal Confocal Microscopy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah   +7 more
wiley   +1 more source

PAXgene Fixation for Pancreatic Cancer: Implications for Molecular and Surgical Pathology. [PDF]

open access: yesJ Clin Med, 2022
DeCoste R   +11 more
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz   +3 more
wiley   +1 more source

Discrepancies between pathologists and clinicians in interpretation of diagnostic uncertainty in surgical pathology reports. [PDF]

open access: yesSci Rep
Battah K   +9 more
europepmc   +1 more source

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