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PLoS ONE, ISSN 1932-6203, 09/2015, Volume 10, Issue 9, p. e0136561
Journal Article
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 10/2016, Volume 94, Issue S256, p. n/a
Usher syndrome is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa... 
Eye diseases | Genetic disorders | Nucleotide sequencing | DNA sequencing | Mutation | Geographical distribution | USH2A protein | Retinitis pigmentosa | Exons | Parents | Disorders | Population genetics | Hearing loss | Gene sequencing | Hereditary diseases | Gene frequency | Alleles | Consanguinity | Retinitis | Children
Journal Article
Molecular Therapy - Nucleic Acids, ISSN 2162-2531, 09/2017, Volume 8, pp. 529 - 541
Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are... 
CRISPR | RNPs | c.2299delG | USH2A | gene editing | Usher syndrome | RETINAL DEGENERATION | MEDICINE, RESEARCH & EXPERIMENTAL | RNA | USHER-SYNDROME | HUMAN-CELLS | DNA | IN-VIVO | MOUSE MODEL | DOUBLE-STRAND BREAK | GENOME | DELIVERY
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2015, Volume 23, Issue 12, pp. 1646 - 1651
Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in... 
GENE-MUTATIONS | DUPLICATIONS | IDENTIFY | ALLELES | MECHANISM | BIOCHEMISTRY & MOLECULAR BIOLOGY | FREQUENCY | GENETICS & HEREDITY | END | PATIENT | PREVALENCE | IDENTIFICATION | Breakpoints | USH2A protein | Congenital diseases | Retinitis pigmentosa | Genes | Otolaryngology | Hearing impairment | Investigations | Hereditary diseases | Retinitis | Vestibular system | Mutation | Deoxyribonucleic acid--DNA
Journal Article