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Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 5, p. 262, doi. 10.1038/jhg.2014.12
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- Publication type:
- Article
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.
- Published in:
- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0193359
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- Publication type:
- Article
TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 9, p. 587, doi. 10.1038/jhg.2012.73
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- Publication type:
- Article
Validation of RNA Extraction Methods and Suitable Reference Genes for Gene Expression Studies in Developing Fetal Human Inner Ear Tissue.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2907, doi. 10.3390/ijms25052907
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- Publication type:
- Article
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4579, doi. 10.3390/ijms20184579
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- Publication type:
- Article
Milestones toward cochlear gene therapy for patients with hereditary hearing loss.
- Published in:
- Laryngoscope Investigative Otolaryngology, 2021, v. 6, n. 5, p. 958, doi. 10.1002/lio2.633
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- Publication type:
- Article
Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing Loss.
- Published in:
- Genes, 2024, v. 15, n. 5, p. 571, doi. 10.3390/genes15050571
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- Publication type:
- Article
Detailed Clinical Features of PTPRQ -Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 489, doi. 10.3390/genes15040489
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- Publication type:
- Article
Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS- CHST14).
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1350, doi. 10.3390/genes14071350
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- Publication type:
- Article
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
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- Genes, 2021, v. 12, n. 10, p. 1623, doi. 10.3390/genes12101623
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- Publication type:
- Article
Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-onset Progressive Hearing Loss.
- Published in:
- Genes, 2020, v. 11, n. 3, p. 273, doi. 10.3390/genes11030273
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- Publication type:
- Article
Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?
- Published in:
- Genes, 2020, v. 11, n. 3, p. 250, doi. 10.3390/genes11030250
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- Publication type:
- Article
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.
- Published in:
- Genes, 2019, v. 10, n. 10, p. 744, doi. 10.3390/genes10100744
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- Publication type:
- Article
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
- Published in:
- Genes, 2019, v. 10, n. 10, p. 735, doi. 10.3390/genes10100735
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- Publication type:
- Article
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss.
- Published in:
- Genes, 2019, v. 10, n. 9, p. 715, doi. 10.3390/genes10090715
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- Publication type:
- Article
Constitutive activation of DIA1 ( DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 11, p. 1310, doi. 10.15252/emmm.201606609
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- Publication type:
- Article
Cochlear Implantation From the Perspective of Genetic Background.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2020, v. 303, n. 3, p. 563, doi. 10.1002/ar.24360
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- Publication type:
- Article
Advances in Molecular Genetics and the Molecular Biology of Deafness.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/5629093
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- Publication type:
- Article
Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss: Massively Parallel DNA Sequencing–Based Analysis.
- Published in:
- 2015
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- Publication type:
- Journal Article
Deafness Gene Variations in a 1120 Nonsyndromic Hearing Loss Cohort: Molecular Epidemiology and Deafness Mutation Spectrum of Patients in Japan.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 49S, doi. 10.1177/0003489415575059
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- Publication type:
- Article
Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss: Massively Parallel DNA Sequencing–Based Analysis.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 158S, doi. 10.1177/0003489415575058
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- Publication type:
- Article
Germinal Mosaicism in a Family With BO Syndrome.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 118S, doi. 10.1177/0003489415575062
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- Publication type:
- Article
Novel Mutations in GRXCR1 at DFNB25 Lead to Progressive Hearing Loss and Dizziness.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 129S, doi. 10.1177/0003489415575061
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- Publication type:
- Article
Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 61S, doi. 10.1177/0003489415575060
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- Publication type:
- Article
Gene Expression Profiles of the Cochlea and Vestibular Endorgans: Localization and Function of Genes Causing Deafness.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 6S, doi. 10.1177/0003489415575549
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- Publication type:
- Article
Mutational Spectrum and Clinical Features of Patients With ACTG1 Mutations Identified by Massively Parallel DNA Sequencing.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 84S, doi. 10.1177/0003489415575057
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- Publication type:
- Article
The Patients Associated With TMPRSS3 Mutations Are Good Candidates for Electric Acoustic Stimulation.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 193S, doi. 10.1177/0003489415575056
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- Publication type:
- Article
Massively Parallel DNA Sequencing Successfully Identified Seven Families With Deafness-Associated MYO6 Mutations: The Mutational Spectrum and Clinical Characteristics.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 148S, doi. 10.1177/0003489415575055
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- Publication type:
- Article
Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 111S, doi. 10.1177/0003489415575044
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- Publication type:
- Article
Novel Mutations in LRTOMT Associated With Moderate Progressive Hearing Loss in Autosomal Recessive Inheritance.
- Published in:
- 2015
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- Publication type:
- Case Study
Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss.
- Published in:
- 2015
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- Publication type:
- Case Study
Novel ABHD12 Mutations in PHARC Patients: The Differential Diagnosis of Deaf-Blindness.
- Published in:
- 2015
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- Publication type:
- Case Study
Mutations in LOXHD1 Gene Cause Various Types and Severities of Hearing Loss.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 135S, doi. 10.1177/0003489415574067
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- Publication type:
- Article
Detailed Hearing and Vestibular Profiles in the Patients with COCH Mutations.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, p. 100S, doi. 10.1177/0003489415573074
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- Publication type:
- Article
Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss.
- Published in:
- 2018
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- Publication type:
- Case Study
Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-63690-5
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- Publication type:
- Article
Prevalence and clinical features of hearing loss caused by EYA4 variants.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-60259-0
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- Publication type:
- Article
Gene Expression Pattern after Insertion of Dexamethasone-Eluting Electrode into the Guinea Pig Cochlea.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0110238
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- Publication type:
- Article
Deafness Gene Expression Patterns in the Mouse Cochlea Found by Microarray Analysis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092547
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- Publication type:
- Article
Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090688
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- Publication type:
- Article
Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0075793
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- Publication type:
- Article
Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071381
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- Publication type:
- Article
Comprehensive Genetic Screening of <i>KCNQ4</i> in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063231
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- Publication type:
- Article
Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0040366
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- Publication type:
- Article
Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study.
- Published in:
- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031276
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- Publication type:
- Article
Phylogeny and biogeography of arctic‐alpine butterflies of the genus Oeneis (Nymphalidae: Satyrinae).
- Published in:
- Entomological Science, 2021, v. 24, n. 2, p. 183, doi. 10.1111/ens.12465
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- Publication type:
- 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.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 903, doi. 10.1007/s00439-022-02431-2
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- Publication type:
- Article
Correction to: Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 865, doi. 10.1007/s00439-021-02351-7
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- Publication type:
- Article
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 665, doi. 10.1007/s00439-021-02371-3
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- Publication type:
- Article