Results 211 to 220 of about 501,931 (318)

Retinal Thickness Profiles in Parkinsonian Syndromes: Discerning Parkinson's Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy via Optical Coherence Tomography. [PDF]

open access: yesBiomedicines
Svetel M   +14 more
europepmc   +1 more source

Combined cilioretinal artery and hemi-retinal vein occlusion in Sturge Weber syndrome: Expanding the clinical spectrum

open access: hybrid, 2017
Sawsan S. Bakri   +3 more
openalex   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti   +14 more
wiley   +1 more source

Editorial: Efficient artificial intelligence (AI) in ophthalmic imaging

open access: yesFrontiers in Medicine
Yanda Meng   +4 more
doaj   +1 more source

Glucosamine attenuates hydrogen peroxide-induced premature senescence in human retinal pigment epithelial cells in vitro

open access: diamond, 2018
Jiann‐Torng Chen   +4 more
openalex   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

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