Found: 16
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COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 889, doi. 10.1007/s00439-021-02368-y
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- Publication type:
- Article
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 915, doi. 10.1007/s00439-021-02367-z
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- Publication type:
- Article
Architecture of the Triceps Surae Muscles Complex in Patients with Spastic Hemiplegia: Implication for the Limited Utility of the Silfverskiöld Test.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 12, p. 2096, doi. 10.3390/jcm8122096
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- Publication type:
- Article
Overlooked KCNQ4 variants augment the risk of hearing loss.
- Published in:
- Experimental & Molecular Medicine EMM, 2023, v. 55, n. 4, p. 844, doi. 10.1038/s12276-023-00976-4
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- Publication type:
- Article
Prevalence of Vitamin D Deficiency in Children with Fractures: Before and during the COVID-19 Outbreak.
- Published in:
- 2022
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- Publication type:
- journal article
Medial Epicondyle Fracture in Children and Its Association with Increased Carrying Angle.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Simple and Versatile Molecular Method of Copy-Number Measurement Using Cloned Competitors.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069414
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- Publication type:
- Article
Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 7, p. 2001, doi. 10.3390/jcm13072001
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- Publication type:
- Article
Feasibility and Effectiveness of a Motion Tracking-Based Online Fitness Program for Office Workers.
- Published in:
- Healthcare (2227-9032), 2021, v. 9, n. 5, p. 584, doi. 10.3390/healthcare9050584
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- Publication type:
- Article
Vestibular hair cells are more prone to damage by excessive acceleration insult in the mouse with KCNQ4 dysfunction.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-66115-9
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- Publication type:
- Article
Trampoline-related fractures of the proximal tibia in children.
- Published in:
- Journal of Orthopaedic Surgery & Research, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13018-021-02707-9
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- Publication type:
- Article
Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains.
- Published in:
- Biomedicines, 2022, v. 10, n. 4, p. 798, doi. 10.3390/biomedicines10040798
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- Publication type:
- Article
Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 18, p. 2328, doi. 10.3390/cells12182328
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- Publication type:
- Article
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.
- Published in:
- Human Mutation, 2019, v. 40, n. 3, p. 335, doi. 10.1002/humu.23698
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- Publication type:
- Article
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34876-9
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- Publication type:
- Article
Dermatophyte abscesses caused by Trichophyton rubrum in a patient without pre-existing superficial dermatophytosis: a case report.
- Published in:
- 2016
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- Publication type:
- journal article