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Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1085, pp. 167 - 170
Ciliopathies are a group of disorders caused by a defect in ciliogenesis, ciliary protein trafficking. Because nearly every cell in the body (including the... 
Ciliopathy | Retinitis pigmentosa | Usher syndrome | MEDICINE, RESEARCH & EXPERIMENTAL | OPHTHALMOLOGY | GENETICS & HEREDITY | CELL BIOLOGY
Journal Article
Otology & Neurotology, ISSN 1531-7129, 01/2019, Volume 40, Issue 1, pp. 121 - 129
OBJECTIVE:To describe the genetic and phenotypic spectrum of Usher syndrome after 6 years of studies by next-generation sequencing, and propose an up-to-date... 
Genes | Systematic review | PREVALENCE | CLINICAL NEUROLOGY | Meta-analysis | MOLECULAR DIAGNOSIS | Sensorineural hearing loss | Usher syndrome | MYOSIN-VIIA | OTORHINOLARYNGOLOGY | FREQUENCY | Genetics | DEAFNESS | MUTATIONS | SPECTRUM | HEREDITARY HEARING-LOSS | CADHERIN-23 | RETINITIS-PIGMENTOSA | Usher's syndrome | Care and treatment | Genetic aspects | Nucleotide sequencing | Analysis | DNA sequencing
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2012, Volume 44, Issue 11, pp. 1265 - 1271
Journal Article
Current Eye Research, ISSN 0271-3683, 10/2018, Volume 43, Issue 10, pp. 1295 - 1301
Purpose: The aim of this study is to report on the results of color vision testing in a European cohort of patients with Usher syndrome (USH). We describe the... 
visual acuity | retinal dystrophy | Usher syndrome | color vision | VISUAL-ACUITY | OPTICAL COHERENCE TOMOGRAPHY | RETINAL DISEASE | FOVEAL LESIONS | PROTEIN NETWORK | SYNDROME TYPE-III | CLARIN-1 GENE | MOLECULAR LINKS | OPHTHALMOLOGY | SYNDROME TYPE-1 | RETINITIS-PIGMENTOSA
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 06/2010, Volume 55, Issue 6, pp. 327 - 335
Journal Article
Journal Article