Results 121 to 130 of about 106,163 (352)
Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care
Acta Ophthalmologica, EarlyView.Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano +26 more
wiley +1 more source
Antimicrobial prescribing guidelines for horses in Australia
Australian Veterinary Journal, EarlyView.The growing problem of antimicrobial resistance also affects equine veterinarians with increasing frequency. Antimicrobial stewardship and responsible prescribing are essential for a future in which effective antimicrobials are available, as it is unlikely that new antimicrobials will become available for use in horses.
L Hardefeldt +18 more
wiley +1 more source
Nystagmus in enlarged vestibular aqueduct: a case series
Audiology Research, 2015 Enlarged vestibular aqueduct (EVA) is one of the commonly identified congenital temporal bone abnormalities associated with sensorineural hearing loss.
Judith White, Paul Krakovitz
doaj +1 more source
Causes and Treatment of Congenital Eccentric Nystagmus [PDF]
, 1953 Jonathan Anderson
openalex +1 more source
Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease
Clinical Genetics, EarlyView.We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad +20 more
wiley +1 more source
A Developmental Model of Congenital Nystagmus [PDF]
, 2005 Purpose: Congenital nystagmus (CN) is a spontaneous oscillation of the eyes with an onset in the first few months of life. In 90% of affected children there is an associated underlying sensory defect (foveal hypoplasia, cone dysfunction, cataracts, etc.).
Berry, David L., Harris, Christopher M.
core
Clinical Genetics, EarlyView.We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel +10 more
wiley +1 more source