Results 171 to 180 of about 69,648 (309)

Microphthalmia with multiple ocular abnormalities in a foal

open access: yesVeterinary Ophthalmology, EarlyView.
Abstract Objective The aim of this report was to provide a clinical description and clinical, ultrasonographic, and histologic images of a foal with microphthalmia and multiple ocular abnormalities. Animals Studied A 12‐h old Friesian‐American Paint Horse crossbred filly presented for blindness, microphthalmia and marked ventral strabismus in both eyes.
Peter W. Cho   +4 more
wiley   +1 more source

CARDIAC SLOWING DURING STRABISMUS SURGERY [PDF]

open access: bronze, 1962
Hasina Outtz Reed, Tristan McCaughey
openalex   +1 more source

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli   +10 more
wiley   +1 more source

Empowering students to bridge basic and clinical sciences by creating innovative optometric tools

open access: yes
Medical Education, Volume 59, Issue 5, Page 562-563, May 2025.
Tsz Wing Leung
wiley   +1 more source

MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis   +12 more
wiley   +1 more source

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson   +14 more
wiley   +1 more source

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