Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

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Usherin defects lead to early-onset retinal dysfunction in zebrafish Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

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Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

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2017 nî lūn-bûn

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2017年の論文

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Electroretinography Reveals Di ...... d Nonsyndromic USH2A Patients.

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Electroretinography Reveals Di ...... d Nonsyndromic USH2A Patients.

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Electroretinography Reveals Di ...... d Nonsyndromic USH2A Patients.

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Electroretinography Reveals Di ...... d Nonsyndromic USH2A Patients.

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Janet R Sparrow

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Jesse D Sengillo

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Jimmy Duong

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Kaspar Schuerch

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Katherine Boudreault

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Sally Justus

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Stephen H Tsang

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Thiago Cabral

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Vinit B Mahajan

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Winston Lee

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P2860

Functional characterization of the human myosin-7a motor domain

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss

Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lecture

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells

Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.

Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness.

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Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

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P2860

P2860

Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

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