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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 Article
Acta Oto-Laryngologica, ISSN 0001-6489, 06/2019, Volume 139, Issue 6, pp. 479 - 486
Background: Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, vision loss, and occasionally vestibular dysfunction.... 
USH1 | Klinefelter syndrome | MYO7A | USH2A | Usher syndrome | USH2 | OTORHINOLARYNGOLOGY | ISOFORM
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2016, Volume 25, Issue 3, pp. 524 - 533
Journal Article
国际眼科杂志:英文版, ISSN 2222-3959, 2015, Volume 8, Issue 4, pp. 670 - 674
·AIM: To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II(USH2).· METHODS: The ophthalmic examinations and... 
mutation | MYO7A | Usher | next-generation | syndrome | sequencing | MY07A | Next-generation sequencing | Mutation | Usher syndrome | HEARING-LOSS | next-generation sequencing | OPHTHALMOLOGY | MYOSIN VIIA GENE
Journal Article
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 06/2017, Volume 216, Issue 6, pp. 1849 - 1864
Journal Article
Journal Article