Results 191 to 200 of about 152,478 (263)

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

open access: yesClinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam   +9 more
wiley   +1 more source

Adverse Effects of Steroid Therapy in Sudden Sensorineural Hearing Loss: A Scoping Review

open access: yesClinical Otolaryngology, EarlyView.
ABSTRACT Objective Sudden sensorineural hearing loss (SSNHL) is an otologic emergency and is treated with steroid therapy. Despite adverse events (AEs) associated with long‐term steroid use being well evidenced, there is sparsity of literature regarding the AEs of short‐course prescriptions in the SSNHL cohort, which limits the quality of patient ...
M. Achanta   +5 more
wiley   +1 more source

CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential

open access: yesCell Proliferation, EarlyView.
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far   +4 more
wiley   +1 more source

Cataract Update

open access: yesSaudi Journal of Ophthalmology, 2012
openaire   +2 more sources

Neurodevelopmental outcome of perinatal intracranial haemorrhage in patients born at term: A prospective study

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess the neurological and neurodevelopmental outcome of infants born at term with perinatal intracranial haemorrhage (pICH) and examine the clinical and neuroimaging associations. Method A prospective, consecutive, single‐center observational study of longitudinally followed children with pICH identified in the fetal or neonatal ...
Stephanie Libzon   +9 more
wiley   +1 more source

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