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Title A case of epileptic encephalopathy due to a new de novo variant in DNM1 Author Škopková Martina SAVBIOMED - Biomedicínske centrum SAV Co-authors Kolníková Miriam Ilenčíková Denisa Daniš Daniel 1989 SAVBIOMED - Biomedicínske centrum SAV Staník Juraj Klimeš Iwar SAVBIOMED - Biomedicínske centrum SAV Gašperíková Daniela Action APVV-0187-12. Identifikácia nových aspektov monogénových endokrinopatií metódou sekvenovania novej generácie : 2013-2017 : BMC-UEE APVV-0107-12. Molekulárno-genetický výskum s farmakogenetickými konsekvenciami u detí s hyperinzulinemickými hypoglykémiami : 2013-2017 : BMC-ÚEE Source document Genomics of rare disease : abstract book. P. 43. - Hinxton, 2017 ; Genomics of rare disease Category GII - Other publications and documents which is not possible to categorize into classes/categories mentioned above Year 2017 
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Title A novel HNF4A pathogenic variant in a case of congenital hyperinsulinism with glycogenosis - like phenotype Author Gašperíková Daniela SAVBIOMED - Biomedicínske centrum SAV Co-authors Škopková Martina SAVBIOMED - Biomedicínske centrum SAV Brennerová Katarína Daniš Daniel 1989 SAVBIOMED - Biomedicínske centrum SAV Rosoľanková Monika Salingova Anna Bzduch Vladimir Klimeš Iwar SAVBIOMED - Biomedicínske centrum SAV Staník Juraj SAVBIOMED - Biomedicínske centrum SAV Action APVV-0107-12. Molekulárno-genetický výskum s farmakogenetickými konsekvenciami u detí s hyperinzulinemickými hypoglykémiami : 2013-2017 : BMC-ÚEE Source document Genomics of rare disease : abstract book. P. 15. - Hinxton, 2017 ; Genomics of rare disease Category GII - Other publications and documents which is not possible to categorize into classes/categories mentioned above Year 2017 article