Enter your login e-mail to the account
Search
- Reinterpretation of the primary indication in the context of secondary symptoms using a whole-exome approach in a patient with cardiofaciocutaneous syndrome
RNDr. Michal Konečný, PhD., Mgr. Gabriela Krasňanská, RNDr. Gabriela Bľandová, PhD., MUDr. Maria Andrejková, MUDr. Simona Drobňáková, MUDr. Róbert Ostró, Mgr. Vladimír Eliaš, Mgr. Klaudia Čepčeková, PhD., Mgr. Karin Ďurišová, Mgr. Marian Baldovič, PhD.
(1/2026, Original articles & case reports ) - First reported case of Pearson syndrome in Slovakia with atypical phenotype of short stature and mesomelia
RNDr. Gabriela Bľandová, PhD., MUDr. Michaela Murgašová, MUDr. Adam Markocsy, PhD., Mgr. Marian Baldovič, PhD., Mgr. Gabriela Krasňanská, Mgr. Vladimír Eliaš, prof. RNDr. Vanda Repiská, PhD., RNDr. Michal Konečný, PhD.
(1/2026, Original articles & case reports ) - GLASS syndrome caused by a defect in the SATB2 gene: a pilot study in the Slovak population
RNDr. Michal Konečný, PhD., MUDr. Silvia Vogelová, Mgr. Gabriela Krasňanská, RNDr. Gabriela Bľandová, Mgr. Vladimír Eliaš, MUDr. Mária Petríková, Miroslava Mihalíková, Mgr. Marian Baldovič, PhD.
(2/2025, Original articles & case reports ) - Genetic background of autism spectrum disorders – case report
RNDr. Silvia Lakatošová, PhD., Mgr. Gabriela Repiská, PhD., MUDr. Michaela Miklošovičová, Mgr. Mária Kopčíková, Mgr. Ivan Belica, PhD., MUDr. Mária Vidošovičová, RNDr. Lenka Wachsmannová, PhD., Mgr. Gabriela Krasňanská, prof. MUDr. Daniela Ostatníková, PhD., RNDr. Michal Konečný, PhD.
(1/2024, Main topic ) - Occurrence of causal DNA variants associated with SCID congenital immune disorders in the Slovak population
Mgr. Gabriela Krasňanská, RNDr. Lenka Wachsmannová, PhD., Mgr. Marian Baldovič, PhD., Mgr. Gabriela Bľandová, Mgr. Vladimír Eliaš, RNDr. Michal Konečný, PhD.
(1/2024, Original articles & case reports )













