Found: 114
Select item for more details and to access through your institution.
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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
1935-P: Loss of µ-Crystallin Increases Adipose Tissues with Inhibitory Effects on Adipocyte Differentiation through ß-Catenin-Dependent Mechanisms in High-Fat Diet Fed Mice.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1935-P
- By:
- 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
- By:
- Publication type:
- Article
Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4579, doi. 10.3390/ijms20184579
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
- Published in:
- Genes, 2021, v. 12, n. 10, p. 1623, doi. 10.3390/genes12101623
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Significance of definitive concurrent chemoradiotherapy for vulvar cancer: a Japanese Gynecologic Oncology Group nationwide survey study.
- Published in:
- Japanese Journal of Radiology, 2024, v. 42, n. 7, p. 777, doi. 10.1007/s11604-024-01557-9
- By:
- Publication type:
- Article
Treatment specialty‐specific characteristics and outcomes in women with vulvo‐vaginal melanoma: A JGOG‐JSCS joint study.
- Published in:
- Journal of Surgical Oncology, 2022, v. 125, n. 8, p. 1333, doi. 10.1002/jso.26835
- By:
- Publication type:
- Article
Fetal Goitrous Hypothyroidism due to Maternal Thyroid Stimulation-Blocking Antibody: A Case Report.
- Published in:
- Fetal Diagnosis & Therapy, 2010, v. 28, n. 4, p. 220, doi. 10.1159/000320098
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Novel Mutations in LRTOMT Associated With Moderate Progressive Hearing Loss in Autosomal Recessive Inheritance.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Novel ABHD12 Mutations in PHARC Patients: The Differential Diagnosis of Deaf-Blindness.
- Published in:
- 2015
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Propensity score-matched analysis of systemic chemotherapy versus salvage hysterectomy for persistent cervical cancer after definitive radiotherapy/concurrent chemoradiotherapy.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Platinum rechallenge treatment using gemcitabine plus carboplatin with or without bevacizumab for platinum-resistant ovarian cancer.
- Published in:
- International Journal of Clinical Oncology, 2022, v. 27, n. 4, p. 790, doi. 10.1007/s10147-021-02103-7
- By:
- Publication type:
- Article
A retrospective assessment of the safety and efficacy of laparoscopic radical hysterectomy in Japan during the early years following its introduction: a Japanese Gynecologic Oncology Group study (JGOG1081S).
- Published in:
- International Journal of Clinical Oncology, 2021, v. 26, n. 2, p. 417, doi. 10.1007/s10147-020-01799-3
- By:
- Publication type:
- Article
A phase II randomized controlled study of pegylated liposomal doxorubicin and carboplatin vs. gemcitabine and carboplatin for platinum-sensitive recurrent ovarian cancer (GOTIC003/intergroup study).
- Published in:
- International Journal of Clinical Oncology, 2019, v. 24, n. 10, p. 1284, doi. 10.1007/s10147-019-01471-5
- By:
- Publication type:
- Article
Weekly 1-h paclitaxel infusion in patients with recurrent endometrial cancer: a preliminary study.
- Published in:
- International Journal of Clinical Oncology, 2003, v. 8, n. 1, p. 45, doi. 10.1007/s101470300006
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article