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Andrej Ficek

Showing results (11-20 of 26) with videos related to

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Gene|June 15, 2013
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsivenessEmil Polak, Andrej Ficek, Jan Radvanszky, et al.
General Physiology and Biophysics|April 6, 2016
Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selectionMilan Surovy, Andrea Soltysova, Miriam Kolnikova, et al.
Bioinformatics (Oxford, England)|September 12, 2018
Dante: genotyping of known complex and expanded short tandem repeatsJaroslav Budiš, Marcel Kucharík, František Ďuriš, et al.
Scientific Reports|June 26, 2020
A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy PatientsDaniela Kluckova, Miriam Kolnikova, Lubica Lacinova, et al.
Clinical Immunology (Orlando, Fla.)|October 15, 2022
The importance of defining the age-specific TREC/KREC levels for detection of various inborn errors of immunity in pediatric and adult patientsVeronika Medova, Ivana Hulinkova, Nikoleta Laiferova, et al.
Plos One|February 6, 2013
Genetic polymorphisms related to testosterone metabolism in intellectually gifted boysPeter Celec, Denisa Tretinárová, Gabriel Minárik, et al.
Epilepsy Research|July 6, 2021
Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patientsDaniela Kluckova, Miriam Kolnikova, Veronika Medova, et al.
Orphanet Journal of Rare Diseases|August 28, 2020
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variantDana Safka Brozkova, Lukas Varga, Anna Uhrova Meszarosova, et al.
Genes|December 23, 2023
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic ToolKatarína Kušíková, Andrea Šoltýsová, Andrej Ficek, et al.
Investigative Ophthalmology & Visual Science|March 25, 2025
Clinical Value of MLPA for Prognostic Assessment of Chromosomal Rearrangements and DNA Methylation in Uveal MelanomaAndrea Soltysova, Dana Dvorska, Andrej Ficek, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Gene|June 15, 2013
Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsivenessEmil Polak, Andrej Ficek, Jan Radvanszky, et al.
General Physiology and Biophysics|April 6, 2016
Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selectionMilan Surovy, Andrea Soltysova, Miriam Kolnikova, et al.
Bioinformatics (Oxford, England)|September 12, 2018
Dante: genotyping of known complex and expanded short tandem repeatsJaroslav Budiš, Marcel Kucharík, František Ďuriš, et al.
Scientific Reports|June 26, 2020
A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy PatientsDaniela Kluckova, Miriam Kolnikova, Lubica Lacinova, et al.
Clinical Immunology (Orlando, Fla.)|October 15, 2022
The importance of defining the age-specific TREC/KREC levels for detection of various inborn errors of immunity in pediatric and adult patientsVeronika Medova, Ivana Hulinkova, Nikoleta Laiferova, et al.
Plos One|February 6, 2013
Genetic polymorphisms related to testosterone metabolism in intellectually gifted boysPeter Celec, Denisa Tretinárová, Gabriel Minárik, et al.
Epilepsy Research|July 6, 2021
Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patientsDaniela Kluckova, Miriam Kolnikova, Veronika Medova, et al.
Orphanet Journal of Rare Diseases|August 28, 2020
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variantDana Safka Brozkova, Lukas Varga, Anna Uhrova Meszarosova, et al.
Genes|December 23, 2023
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic ToolKatarína Kušíková, Andrea Šoltýsová, Andrej Ficek, et al.
Investigative Ophthalmology & Visual Science|March 25, 2025
Clinical Value of MLPA for Prognostic Assessment of Chromosomal Rearrangements and DNA Methylation in Uveal MelanomaAndrea Soltysova, Dana Dvorska, Andrej Ficek, et al.
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