Found: 19
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Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
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- Experimental & Molecular Medicine EMM, 2021, v. 53, n. 7, p. 1192, doi. 10.1038/s12276-021-00653-4
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- Article
Expansion of phenotypic spectrum of <italic>MYO15A</italic> pathogenic variants to include postlingual onset of progressive partial deafness.
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- BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-018-0541-9
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- Article
Perifosine-induced inhibition of akt attenuates brain-derived neurotrophic factor/TrkB-induced chemoresistance in neuroblastoma in vivo.
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- Cancer (0008543X), 2011, v. 117, n. 23, p. 5412, doi. 10.1002/cncr.26133
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- Article
Liquid plasma promotes angiogenesis through upregulation of endothelial nitric oxide synthase-induced extracellular matrix metabolism: potential applications of liquid plasma for vascular injuries.
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- Cell Communication & Signaling, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12964-023-01412-w
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- Article
Role of phospholipase D2 in anti-apoptotic signaling through increased expressions of Bcl-2 and Bcl-xL.
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- Journal of Cellular Biochemistry, 2007, v. 101, n. 6, p. 1409, doi. 10.1002/jcb.21260
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- Article
Phospholipase D1 activation through Src and Ras is involved in basic fibroblast growth factor-induced neurite outgrowth of H19-7 cells.
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- Journal of Cellular Biochemistry, 2007, v. 101, n. 1, p. 221, doi. 10.1002/jcb.21166
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- Article
Novel genotype–phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss.
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- Human Mutation, 2020, v. 41, n. 11, p. 1877, doi. 10.1002/humu.24095
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- Article
POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features.
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- Human Mutation, 2020, v. 41, n. 5, p. 913, doi. 10.1002/humu.23984
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- Article
Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.
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- Human Mutation, 2019, v. 40, n. 5, p. 525, doi. 10.1002/humu.23719
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- Article
Precision medicine approaches to lung adenocarcinoma with concomitant MET and HER2 amplification.
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- 2017
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- journal article
Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-38245-4
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- Article
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-16661-x
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- Article
Molecular breakdown: a comprehensive view of anaplastic lymphoma kinase ( ALK) -rearranged non-small cell lung cancer.
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- Journal of Pathology, 2017, v. 243, n. 3, p. 307, doi. 10.1002/path.4950
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- Article
Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.
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- 2018
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- Publication type:
- journal article
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
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- Journal of Gene Medicine, 2018, v. 20, n. 6, p. 1, doi. 10.1002/jgm.3019
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- Article
Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.
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- Journal of Gene Medicine, 2017, v. 19, n. 4, p. n/a, doi. 10.1002/jgm.2950
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- Publication type:
- Article
Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder.
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- Diagnostics (2075-4418), 2020, v. 10, n. 9, p. 672, doi. 10.3390/diagnostics10090672
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- Article
The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-62647-y
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- Publication type:
- Article
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 17, p. 4174, doi. 10.3390/ijms20174174
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- Article