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Title Whole-Exome sequencing identifies GYS2 biallelic variants in individuals with suspected epilepsy Author Ilyas Muhammad Co-authors Holzwart Dorothea Ishaq Rafaqat Ali Yasir SAVCHEM 1996- SAVCHEM - Chemický ústav SAV Habiba Umme Mehmood Raja Asad Saeed Sadia Abdullah Uzma Khan Sadiq Noor Ullah Ata Raja Ghazala Kaukab Baig Shahid Mehmood Fazeli Walid Kunz Wolfram S. Shaiq Pakeeza Arzoo Source document Seizure - European Journal of Epilepsy. (2023) Category ADMB - Scientific papers in foreign non-impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok DOI 10.1016/j.seizure.2023.07.020 
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Title DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene Author Kolníková Miriam Co-authors Škopková Martina SAVBIOMED - Biomedicínske centrum SAV Ilenčíková Denisa Foltan Tomáš Payerová Jaroslava Daniš Daniel 1989 SAVBIOMED - Biomedicínske centrum SAV Klimeš Iwar SAVBIOMED - Biomedicínske centrum SAV Staník Juraj SAVBIOMED - Biomedicínske centrum SAV Gašperíková Daniela SAVBIOMED - Biomedicínske centrum SAV Action APVV-0187-12. Identifikácia nových aspektov monogénových endokrinopatií metódou sekvenovania novej generácie : 2013-2017 : BMC-UEE ITMS 26240220087. Univerzitný vedecký park pre biomedicínu Bratislava : 2013-2015 VEGA 2/0083/17. Celoexómové sekvenovanie u pacientov s podozrením na primárne mitochondriopatie : 2017-2020 Source document Seizure - European Journal of Epilepsy. Vol. 56 (2018), p. 31-33 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2018 DOI 10.1016/j.seizure.2018.01.020 File name Access Size Downloaded Type License DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.pdf Neprístupný/archív 1.2 MB 5 Publisher's version article