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Autori: Perenthaler Elena

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Naslov Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases (Meeting Abstract)
Autori Perenthaler Elena ... Capo Ivan Dj  ... (broj koautora 46) 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2020), vol. 28 br. SUPPL 1, Suppl. 1, str. 100-101
Ispravka Web of Science   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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Naslov Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases (Article)
Autori Perenthaler Elena ... Capo Ivan Dj  ... (broj koautora 69) 
Info ACTA NEUROPATHOLOGICA, (2020), vol. 139 br. 3, str. 415-442
Projekat Brain and Behavior Research Foundation [NARSAD Young Investigator award]; ZonMW Veni [91617021]
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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