Results 21 to 30 of about 7,382 (203)
Biomédica: revista del Instituto Nacional de Salud, 2011 Introducción. El síndrome de Usher se caracteriza por hipoacusia neurosensorial congénita, retinitis pigmentaria y disfunción vestibular. Es la causa más frecuente de sordo-ceguera en el mundo.
Greizy López +2 more
doaj +1 more source
Adaptive optics imaging of inherited retinal diseases. [PDF]
, 2017 Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a microscopic scale, thereby helping to improve our understanding of retinal diseases.
Carroll, J +5 more
core +1 more source
Guanylate cyclase C as a target for prevention, detection, and therapy in colorectal cancer. [PDF]
, 2017 INTRODUCTION: Colorectal cancer remains the second leading cause of cancer death in the United States, and new strategies to prevent, detect, and treat the disease are needed.
Aka, Allison A. +5 more
core +2 more sources
BMC Medical Genomics, 2018 Background Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL.
Rubén Cabanillas +25 more
doaj +1 more source
Accelerated age-related olfactory decline among type 1 Usher patients [PDF]
, 2016 Usher Syndrome (USH) is a rare disease with hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. A phenotype heterogeneity is reported.
António, N +6 more
core +1 more source
Universal newborn hearing screening in the Lazio region, Italy [PDF]
, 2018 Background: The introduction of Universal Newborn Hearing Screening (UNHS) programs has drastically contributed to the early diagnosis of hearing loss in children, allowing prompt intervention with significant results on speech and language development ...
Cammeresi, Maria Gloria +11 more
core +1 more source
Communication in deafblind adults with Usher syndrome: retrospective observational study [PDF]
, 2013 PURPOSE: To characterize the communication and the main mechanisms that facilitate interpersonal relationships of deafblind, especially in relation to communication and locomotion and the impact of these aspects on deafblindness.
Chiari, Brasilia Maria +2 more
core +2 more sources
Audiogenic reflex seizures in cats [PDF]
, 2015 This study aims at characterizing feline audiogenic reflex seizures (FARS). An online questionnaire was developed to capture information from owners with cats suffering FARS.
Bessant, C +4 more
core +2 more sources
Mymensingh medical journal : MMJ, 2012 A young girl of 10 years age came from Nalitabari, Sherpur was admitted in the department of Ophthalmology, Mymensingh Medical College Hospital, Mymensingh on the 5th January 2011 with the complaints of dimness of vision of both eyes, night blindness and profound deafness since birth. She had parental history of consanguineous marriage.
M M, Hossain, M F, Islam
+6 more sources
Proteome scanning to predict PDZ domain interactions using support vector machines
BMC Bioinformatics, 2010 Background PDZ domains mediate protein-protein interactions involved in important biological processes through the recognition of short linear motifs in their target proteins.
Bader Gary D, Hui Shirley
doaj +1 more source