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Sylvia Cherninkova

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Journal of Neurogenetics|April 18, 2013
Possible toxicity of tuberculostatic agents in a patient with a novel TYMP mutation leading to mitochondrial neurogastrointestinal encephalomyopathyVioleta Mihaylova, Velina Guergueltcheva, Sylvia Cherninkova, et al.
Molecular Genetics & Genomic Medicine|June 3, 2022
Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophiesKunka Kamenarova, Kalina Mihova, Nevyana Veleva, et al.
Journal of Neuromuscular Diseases|July 12, 2024
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon SubunitKristina Kastreva, Teodora Chamova, Stanislava Blagoeva, et al.
Journal of Pediatric Ophthalmology and Strabismus|June 28, 2014
Amblyopia screening in BulgariaAlexander Oscar, Sylvia Cherninkova, Vasil Haykin, et al.
European Journal of Human Genetics : EJHG|August 30, 2012
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10qKunka Kamenarova, Sylvia Cherninkova, Margarita Romero Durán, et al.
European Neurology|February 25, 2016
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type CTeodora Chamova, Andrey Kirov, Velina Guergueltcheva, et al.
Genes|June 26, 2025
Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious MinorityTeodora Chamova, Tihomir Todorov, Paulius Palaima, et al.
Molecular Genetics & Genomic Medicine|July 24, 2024
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-SaguenayTeodora Chamova, Neviana Ivanova, Sylvia Cherninkova, et al.
Frontiers in Neurology|April 25, 2022
Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in BulgariaTeodora Chamova, Mariana Gospodinova, Ognian Asenov, et al.
American Journal of Human Genetics|August 21, 2012
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1Velina Guergueltcheva, Dimitar N Azmanov, Dora Angelicheva, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

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Pageof 2
Journal of Neurogenetics|April 18, 2013
Possible toxicity of tuberculostatic agents in a patient with a novel TYMP mutation leading to mitochondrial neurogastrointestinal encephalomyopathyVioleta Mihaylova, Velina Guergueltcheva, Sylvia Cherninkova, et al.
Molecular Genetics & Genomic Medicine|June 3, 2022
Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophiesKunka Kamenarova, Kalina Mihova, Nevyana Veleva, et al.
Journal of Neuromuscular Diseases|July 12, 2024
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon SubunitKristina Kastreva, Teodora Chamova, Stanislava Blagoeva, et al.
Journal of Pediatric Ophthalmology and Strabismus|June 28, 2014
Amblyopia screening in BulgariaAlexander Oscar, Sylvia Cherninkova, Vasil Haykin, et al.
European Journal of Human Genetics : EJHG|August 30, 2012
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10qKunka Kamenarova, Sylvia Cherninkova, Margarita Romero Durán, et al.
European Neurology|February 25, 2016
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type CTeodora Chamova, Andrey Kirov, Velina Guergueltcheva, et al.
Genes|June 26, 2025
Variant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious MinorityTeodora Chamova, Tihomir Todorov, Paulius Palaima, et al.
Molecular Genetics & Genomic Medicine|July 24, 2024
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-SaguenayTeodora Chamova, Neviana Ivanova, Sylvia Cherninkova, et al.
Frontiers in Neurology|April 25, 2022
Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in BulgariaTeodora Chamova, Mariana Gospodinova, Ognian Asenov, et al.
American Journal of Human Genetics|August 21, 2012
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1Velina Guergueltcheva, Dimitar N Azmanov, Dora Angelicheva, et al.
Pageof 2