Works matching DE "JERVELL-Lange Nielsen syndrome"
Results: 23
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano–Ward syndrome.
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- Frontiers in Cellular Neuroscience, 2015, v. 8/9, p. 1, doi. 10.3389/fncel.2015.00032
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- Article
Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.
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- Iranian Journal of Basic Medical Sciences, 2018, v. 21, n. 1, p. 108, doi. 10.22038/IJBMS.2017.23207.5908
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- Article
Comprehensive genetic testing can save lives in hereditary hearing loss.
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- Clinical Genetics, 2015, v. 87, n. 2, p. 190, doi. 10.1111/cge.12376
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- Publication type:
- Article
De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.
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- Clinical Genetics, 2014, v. 86, n. 5, p. 492, doi. 10.1111/cge.12300
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- Article
Turkish perspective of Jervell and Lange-Nielsen syndrome.
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- Annals of Indian Academy of Neurology, 2013, v. 16, n. 1, p. 129, doi. 10.4103/0972-2327.107703
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- Article
Jervell and Lange-Nielsen syndrome with homozygous missense mutation of the KCNQ1 gene.
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- Turkish Journal of Pediatrics, 2014, v. 56, n. 5, p. 542
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- Publication type:
- Article
"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0474-8
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- Article
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0430-7
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- Article
Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-48
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- Article
Left Ventricular Geometric Pattern Impacts QT Dispersion in Males Athletes and Sedentary Men.
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- Echocardiography, 2024, v. 41, n. 10, p. 1, doi. 10.1111/echo.15937
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- Article
Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome.
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- Scandinavian Cardiovascular Journal, 2015, v. 49, n. 1, p. 7, doi. 10.3109/14017431.2014.988172
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- Article
QT interval prolongation and risk for cardiac events in genotyped LQTS-index children.
- Published in:
- 2009
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- Publication type:
- journal article
Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.
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- 2017
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- Publication type:
- Case Study
Propranolol syrup to tablets change triggers electrical storm in Jervell-Lange-Nielsen syndrome.
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- 2021
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- Publication type:
- journal article
Behavioral training promotes multiple adaptive processes following acute hearing loss.
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- eLife, 2016, p. 1, doi. 10.7554/eLife.12264
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- Publication type:
- Article
Safe anesthesia management protocol of a child with congenital long QT syndrome and deafness (Jervell and lange-nielsen syndrome) for cochlear implant surgery.
- Published in:
- 2015
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- Publication type:
- Letter to the Editor
Left cardiac sympathetic denervation in children with Jervell Lange‐Nielsen syndrome and drug refractory torsades – A case series.
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- Pacing & Clinical Electrophysiology, 2023, v. 46, n. 10, p. 1197, doi. 10.1111/pace.14827
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- Article
Prospective case-controlled sound localisation study after cochlear implantation in adults with single-sided deafness and ipsilateral tinnitus.
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- Clinical Otolaryngology, 2016, v. 41, n. 5, p. 511, doi. 10.1111/coa.12555
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- Article
Jervell and Lange–Nielsen Syndrome: Homozygous Missense Mutation of <i>KCNQ1</i> in a Turkish Family.
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- 2013
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- Publication type:
- Case Study
Most sudden deaths in adolescent athletes caused by cardiac conditions.
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- 2003
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- Publication type:
- journal article
The frequency of congenital long QT syndrome based on new formula in children with sensori-neural hearing loss.
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- Indian Journal of Otology, 2015, v. 21, n. 2, p. 114, doi. 10.4103/0971-7749.155297
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- Publication type:
- Article
Cardiac precautions in patient with Jervell and Lange-Nielson syndrome undergoing cochlear implantation.
- Published in:
- 2015
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- Publication type:
- Case Study