Search results
Title Genetic background of sensorineural hearing loss in Slovakia: data from Slovak nation-wide survey Author Gašperíková Daniela SAVBIOMED - Biomedicínske centrum SAV Co-authors Varga Lukáš 1982- SAVBIOMED - Biomedicínske centrum SAV Mašindová Ivica 1983 SAVBIOMED - Biomedicínske centrum SAV Daniš Daniel 1989 SAVBIOMED - Biomedicínske centrum SAV Škopková Martina SAVBIOMED - Biomedicínske centrum SAV Kabátová Zuzana SAVBIOMED - Biomedicínske centrum SAV Profant Milan Klimeš Iwar SAVBIOMED - Biomedicínske centrum SAV Action VEGA 1/0214/16. Celoexómové sekvenovanie v multiplexných rodinách s hereditárnou poruchou sluchu na Slovensku: identifikácia nových génových variantov. : 2016-2019 : BMC-UEE Source document ESHG 2017 : European Human Genetics Conference. P. P02.17A. - : ESHG European Society of Human Genetics, 2017 ; European Human Genetics Conference ESHG 2017 Category GII - Other publications and documents which is not possible to categorize into classes/categories mentioned above Year 2017 
article
Title A novel HNF4A pathogenic variant in a case of congenital hyperinsulinism with glycogenosis - like phenotype Author Škopková Martina SAVBIOMED - Biomedicínske centrum SAV Co-authors Staník Juraj 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 Gašperíková Daniela 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 ESHG 2017 : European Human Genetics Conference. P. P06.14B. - : ESHG European Society of Human Genetics, 2017 ; European Human Genetics Conference ESHG 2017 Category GII - Other publications and documents which is not possible to categorize into classes/categories mentioned above Year 2017 article