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1دورية أكاديمية
المؤلفون: Andrea Petrovicova, Miroslav Brozman, Egon Kurca, Tibor Gobo, Jana Dluha, Klaudia Kalmarova, Vladimir Nosal, Martina Hikkelova, Adriana Krajciova, Tatiana Burjanivova, Stefan Sivak
المصدر: Biomedical Papers, Vol 161, Iss 1, Pp 107-110 (2017)
مصطلحات موضوعية: episodic ataxia type 2, novel variant, cacna1a, pore loop, Medicine
وصف الملف: electronic resource
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المؤلفون: Štefan Sivák, Klaudia Kalmarova, Andrea Petrovičová, Vladimir Nosal, Adriana Krajciova, Egon Kurča, Miroslav Brozman, Tibor Gobo, Jana Dluha, Martina Hikkelova, Tatiana Burjanivova
المصدر: Biomedical Papers, Vol 161, Iss 1, Pp 107-110 (2017)
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Slovakia, Ataxia, Mutation, Missense, lcsh:Medicine, Biology, Genetic analysis, General Biochemistry, Genetics and Molecular Biology, Young Adult, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Recurrence, medicine, Humans, Missense mutation, cacna1a, Age of Onset, Gene, Genetics, Sanger sequencing, Calcium channel, lcsh:R, Chromosome, Middle Aged, Pedigree, novel variant, genomic DNA, 030104 developmental biology, episodic ataxia type 2, pore loop, symbols, Female, Calcium Channels, medicine.symptom, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73397b41c19b8cd106f39671b33a1af0
https://biomed.papers.upol.cz/artkey/bio-201701-0015_Novel_missense_variant_of_CACNA1A_gene_in_a_Slovak_family_with_episodic_ataxia_type_2.php -
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المؤلفون: Ludovit Kadasi, Eveline Fiedler, Gabriel Minarik, Tomáš Szemes, Jan Radvanszky, Michaela Hyblova, Jan Turna, Martina Hikkelova, Darina Durovcikova
المصدر: Clinical Genetics. 91:339-343
مصطلحات موضوعية: 0301 basic medicine, Genetics, 030105 genetics & heredity, Biology, medicine.disease, Blepharophimosis, 03 medical and health sciences, Exon, Intellectual disability, Mutation (genetic algorithm), medicine, Genitopatellar syndrome, Allele, Psychomotor disorder, Genetics (clinical), Sequence (medicine)
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المؤلفون: Adriana Krajciova, Štefan Sivák, Daniel Čierny, Juraj Šimko, Martina Hikkelova, Ema Kantorová, Monika Turčanová-Koprušáková, Tatiana Burjanivova, Vladimir Nosal, Egon Kurča, Nadežda Mišovicová
المصدر: Journal of the Neurological Sciences. 376:119-120
مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, CACNA1A gene, Episodic ataxia type 2, Nystagmus, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Mutation (genetic algorithm), medicine, Missense mutation, Neurology (clinical), Young adult, medicine.symptom, business, 030217 neurology & neurosurgery