Results 161 to 170 of about 108,556 (256)

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

open access: yesClinical Genetics, Volume 110, Issue 3, Page 336-346, September 2026.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen   +9 more
wiley   +1 more source

Aetiology, characteristics and workup of early onset high myopia. [PDF]

open access: yesBr J Ophthalmol
Son HS   +11 more
europepmc   +1 more source

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

open access: yesJournal of the Peripheral Nervous System, Volume 31, Issue 3, September 2026.
ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNAHIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been associated with three phenotypes: autosomal dominant Charcot–Marie–Tooth (CMT)
Christina Del Greco   +5 more
wiley   +1 more source

Clinical Characterization of Glaucoma in 63 Pet Rabbits (Oryctolagus cuniculus) in Japan

open access: yesVeterinary Ophthalmology, Volume 29, Issue 5, September 2026.
ABSTRACT Objective To characterize the signalment and clinical presentation of glaucoma in pet rabbits. Animal Studied Client‐owned pet rabbits (n = 222) referred to an exotic specialty animal hospital for ophthalmic examination between 2007 and 2023.
Kumiko Kato   +3 more
wiley   +1 more source

Effect of artificial gravity on calcaneal bone marrow adipose tissue and mineral content in female and male participants in 60 days of bed rest

open access: yesExperimental Physiology, Volume 111, Issue 9, Page 4140-4152, 1 September 2026.
Abstract Modulation of bone marrow adipose tissue (BMAT) with prolonged inactivity was reported in haemopoietic but not in non‐haemopoietic bones. This prospective randomized controlled trial submitted 16 men and 8 women to 60 days of 6° head‐down‐tilt bed rest.
Tammy Liu   +5 more
wiley   +1 more source

53-year-old Woman with Opsoclonus-Myoclonus Syndrome. [PDF]

open access: yesClin Pract Cases Emerg Med
Stephens T, Imhoff B, Patel J.
europepmc   +1 more source

Wrong-Way Nystagmus In Acute Vestibular Disorders

open access: yes
Peripheral vestibular disorders classically present with contralesional (inhibitory) nystagmus (e.g., vestibular neuritis in the acute vestibular syndrome [AVS]), while ipsilesional (excitatory) nystagmus is less common (e.g., Ménière\u27s in the ...
Claire Allen; Jorge Kattah; Bernardo Ramos; Daniel Gold
core  

Home - About - Disclaimer - Privacy