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1
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome
Published 2022-08-01Subjects: Get full text
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2
USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families
Published 2021-04-01Subjects: Get full text
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3
Usher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The USH2A Gene
Published 2024-06-01Subjects: Get full text
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4
Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2
Published 2020-02-01Subjects: Get full text
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5
Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a
Published 2023-12-01Subjects: Get full text
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6
Mutational screening of the <it>USH2A </it>gene in Spanish USH patients reveals 23 novel pathogenic mutations
Published 2011-10-01Subjects: Get full text
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7
Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families
Published 2022-07-01Subjects: Get full text
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8
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment
Published 2018-07-01Subjects: Get full text
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9
A Novel Frameshift Mutation of the Gene in a Korean Patient with Usher Syndrome Type II
Published 2013-03-01Subjects: Get full text
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10
High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population
Published 2024-06-01Subjects: “…USH2A…”
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11
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation
Published 2016-01-01Subjects: Get full text
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12
Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient
Published 2021-10-01Subjects: Get full text
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14
USH2A Mutation is Associated With Tumor Mutation Burden and Antitumor Immunity in Patients With Colon Adenocarcinoma
Published 2021-11-01Subjects: Get full text
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15
SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins
Published 2019-10-01Subjects: Get full text
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16
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
Published 2023-10-01Subjects: Get full text
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17
Retinal organoids and microfluidic chip-based approaches to explore the retinitis pigmentosa with USH2A mutations
Published 2022-09-01Subjects: Get full text
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18
A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy
Published 2024-07-01Subjects: Get full text
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19
Dual-AAV vector-mediated expression of MYO7A improves vestibular function in a mouse model of Usher syndrome 1B
Published 2023-09-01Subjects: Get full text
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20
Nuclear–Cytoplasmic Shuttling of the Usher Syndrome 1G Protein SANS Differs from Its Paralog ANKS4B
Published 2024-11-01Subjects: Get full text
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