Works matching DE "USHER'S syndrome"
Results: 401
فعالية برنامج تدريبي قائم على التواصل المُعزّز والبديل في تحسين بعض المهارات الحياتية اليومية لدى الأطفال الصم المكفوفين ذوي متلازمة أشر.
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- Journal of the Faculty of Education, Beni Suef University, 2025, v. 22, n. 124, Part 1, p. 791
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- Article
Comparison of CRISPR-Cas13b RNA base editing approaches for USH2A-associated inherited retinal degeneration.
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- Communications Biology, 2025, p. 1, doi. 10.1038/s42003-025-07557-3
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- Article
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
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- Human Genetics, 2022, v. 141, n. 11, p. 1723, doi. 10.1007/s00439-022-02441-0
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- Article
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 709, doi. 10.1007/s00439-022-02448-7
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- Article
Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 759, doi. 10.1007/s00439-022-02446-9
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- Article
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 903, doi. 10.1007/s00439-022-02431-2
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- Article
Genetic etiology of hearing loss in Iran.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 623, doi. 10.1007/s00439-021-02421-w
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- Article
Hearing loss in Africa: current genetic profile.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 505, doi. 10.1007/s00439-021-02376-y
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- Article
Molecular genetic landscape of hereditary hearing loss in Pakistan.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 633, doi. 10.1007/s00439-021-02320-0
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- Article
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 737, doi. 10.1007/s00439-021-02324-w
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- Article
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 595, doi. 10.1007/s00439-021-02323-x
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- Article
Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 583, doi. 10.1007/s00439-021-02314-y
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- Article
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 785, doi. 10.1007/s00439-021-02303-1
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- Article
Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy.
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- Human Genetics, 2018, v. 137, n. 10, p. 779, doi. 10.1007/s00439-018-1936-6
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- Article
Overcoming barriers to the involvement of deafblind people in conversations about research: recommendations from individuals with Usher syndrome.
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- Research Involvement & Engagement, 2018, v. 4, n. 1, p. N.PAG, doi. 10.1186/s40900-018-0124-0
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- Article
Harmonin enhances voltage-dependent facilitation of Ca<sub>v</sub>1.3 channels and synchronous exocytosis in mouse inner hair cells.
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- Journal of Physiology, 2013, v. 591, n. 13, p. 3253, doi. 10.1113/jphysiol.2013.254367
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- Article
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-57415-1
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- Article
Zebrafish Models of Photoreceptor Dysfunction and Degeneration.
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- Biomolecules (2218-273X), 2021, v. 11, n. 1, p. 78, doi. 10.3390/biom11010078
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- Article
ANOMALOUS HISTOLOGICAL FINDINGS IN PEMPHIGUS.
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- British Journal of Dermatology, 1954, v. 66, n. 2, p. 49, doi. 10.1111/j.1365-2133.1954.tb12587.x
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- Article
Senear-Usher Syndrome.
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- British Journal of Dermatology, 1952, v. 64, n. 7/8, p. 308
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- Article
Retinitis Pigmentosa -- Strategies for the Present and Future.
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- Eye Care Review, 2009, v. 3, n. 1, p. 28
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- Article
Schizophrenia and cortical blindness: protective effects and implications for language.
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- Frontiers in Human Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnhum.2014.00940
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- Article
This Week in The Journal.
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- Journal of Neuroscience, 2015, v. 35, n. 28, p. i
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- Article
Localization of PDZD7 to the Stereocilia Ankle-Link Associates this Scaffolding Protein with the Usher Syndrome Protein Network.
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- Journal of Neuroscience, 2012, v. 32, n. 41, p. 14288, doi. 10.1523/JNEUROSCI.3071-12.2012
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- Article
Regulated Vesicular Trafficking of Specific PCDH15 and VLGRl Variants in Auditory Hair Cells.
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- Journal of Neuroscience, 2012, v. 32, n. 40, p. 13841, doi. 10.1523/JNEUROSCI.1242-12.2012
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- Article
Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.
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- BMC Ophthalmology, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12886-022-02353-7
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- Article
USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.
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- 2021
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- journal article
A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09603-5
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Novel pathogenic WHRN variant causing hearing loss in a moroccan family.
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- Molecular Biology Reports, 2023, v. 50, n. 12, p. 10663, doi. 10.1007/s11033-023-08901-8
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- Article
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
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- Ophthalmic Research, 2022, v. 65, n. 2, p. 180, doi. 10.1159/000520329
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- Article
Audiometric Characteristics of USH2a Patients.
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- Audiology & Neurotology, 2009, v. 14, n. 4, p. 223, doi. 10.1159/000189265
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- Article
Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients.
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- Audiology & Neurotology, 2005, v. 10, n. 2, p. 79, doi. 10.1159/000083363
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Decoding the consecutive lysosomal degradation of 3-O-sulfate containing heparan sulfate by Arylsulfatase G (ARSG).
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- Biochemical Journal, 2021, v. 478, n. 17, p. 3221, doi. 10.1042/BCJ20210415
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- Article
A Case of Autosomal Recessive Retinitis Pigmentosa with Vitelliform-Like Appearance at the Macula Associated with Novel MYO7A Variant P.Ser383TrpfsTer64.
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- Beyoglu Eye Journal, 2024, v. 9, n. 4, p. 235, doi. 10.14744/bej.2024.90235
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- Article
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
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- Human Genetics, 2008, v. 124, n. 3, p. 215, doi. 10.1007/s00439-008-0543-3
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In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome.
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- Human Genetics, 2007, v. 122, n. 3/4, p. 373, doi. 10.1007/s00439-007-0410-7
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- Article
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
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- Human Genetics, 2007, v. 121, n. 2, p. 203, doi. 10.1007/s00439-006-0304-0
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- Article
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 356, doi. 10.1007/s00439-005-0054-4
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- Article
A new locus ( RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.
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- Human Genetics, 2005, v. 118, n. 3/4, p. 501, doi. 10.1007/s00439-005-0063-3
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- Article
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
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- Human Genetics, 2005, v. 116, n. 4, p. 292, doi. 10.1007/s00439-004-1227-2
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- Article
TheUSH1C216G?A splice-site mutation results in a 35-base-pair deletion.
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- Human Genetics, 2005, v. 116, n. 3, p. 225, doi. 10.1007/s00439-004-1217-4
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- Article
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
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- Human Genetics, 2004, v. 115, n. 2, p. 149, doi. 10.1007/s00439-004-1137-3
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- Article
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.
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- Human Genetics, 2002, v. 110, n. 6, p. 527, doi. 10.1007/s00439-002-0732-4
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- Article
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25.
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- Human Genetics, 2002, v. 110, n. 4, p. 348, doi. 10.1007/s00439-002-0690-x
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- Article
The USH1C 216G→A mutation and the 9-repeat VNTR(t,t) allele are in complete linkage disequilibrium in the Acadian population.
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- Human Genetics, 2002, v. 110, n. 1, p. 95, doi. 10.1007/s00439-001-0653-7
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- Article
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-023-00388-3
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- Article
The Outcomes of Cochlear Implantation in Usher Syndrome: A Systematic Review.
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- Journal of Clinical Medicine, 2021, v. 10, n. 13, p. 2915, doi. 10.3390/jcm10132915
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- Article
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.
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- Journal of Cell Biology, 2017, v. 216, n. 6, p. 1849, doi. 10.1083/jcb.201612030
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- Article
Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.
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- Journal of Cell Biology, 2016, v. 212, n. 2, p. 231, doi. 10.1083/jcb.201509017
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Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.
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- Journal of Cell Biology, 2012, v. 199, n. 2, p. 381, doi. 10.1083/jcb.201202012
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- Article