Results 231 to 240 of about 2,705,126 (404)

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

Outpatient Cataract Surgery

open access: bronze, 1986
Benjamin Esterman
openalex   +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

Highlighting the methodology.

open access: yes, 2006
Bartlett, JW, Frost, C, Shah, SP
core   +1 more source

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