Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report

por Brennerová, Katarína, Škopková, Martina, Ostrožlíková, Mária, Šaligová, Jana, Staník, Juraj, Bzdúch, Vladimír, Gašperíková, Daniela
Publicado 2021

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report

por Varga, Lukas, Danis, Daniel, Skopkova, Martina, Masindova, Ivica, Slobodova, Zuzana, Demesova, Lucia, Profant, Milan, Gasperikova, Daniela
Publicado 2019

Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss

por Pavlenkova, Zuzana, Varga, Lukas, Borecka, Silvia, Karhanek, Miloslav, Huckova, Miloslava, Skopkova, Martina, Profant, Milan, Gasperikova, Daniela
Publicado 2021

Complete remission in children and adolescents with type 1 diabetes mellitus—prevalence and factors

por Podolakova, Kristina, Barak, Lubomir, Jancova, Emilia, Tarnokova, Simona, Podracka, Ludmila, Dobiasova, Zuzana, Skopkova, Martina, Gasperikova, Daniela, Stanik, Juraj
Publicado 2023

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

por Skopkova, Martina, Stufkova, Hana, Rambani, Vibhuti, Stranecky, Viktor, Brennerova, Katarina, Kolnikova, Miriam, Pietrzykova, Michaela, Karhanek, Miloslav, Noskova, Lenka, Tesarova, Marketa, Hansikova, Hana, Gasperikova, Daniela
Publicado 2023

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 ethn...

por Safka Brozkova, Dana, Varga, Lukas, Uhrova Meszarosova, Anna, Slobodova, Zuzana, Skopkova, Martina, Soltysova, Andrea, Ficek, Andrej, Jencik, Jan, Lastuvkova, Jana, Gasperikova, Daniela, Seeman, Pavel
Publicado 2020

Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents

por Stanikova, Daniela, Buzga, Marek, Krumpolec, Patrik, Skopkova, Martina, Surova, Martina, Ukropcova, Barbara, Ticha, Lubica, Petrasova, Miroslava, Gabcova, Dominika, Huckova, Miroslava, Piskorova, Lucie, Bozensky, Jan, Mokan, Marian, Ukropec, Jozef, Zavacka, Ivona, Klimes, Iwar, Stanik, Juraj, Gasperikova, Daniela
Publicado 2017