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]
Svetel M +14 more
europepmc +1 more source
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
Yanda Meng +4 more
doaj +1 more source
Clinical Significance of Conjunctival Microvascular Density in Diabetic Retinopathy: A Multimodal Correlation Study Based on Swept-Source Optical Coherence Tomography Angiography. [PDF]
Huang X, Yu J, Zou W, Xiang X, Liu H.
europepmc +1 more source
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

