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1 Ergebnisse
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Biallelic variants in ADARB1, encoding a dsRNA-specific ade..:
Maroofian, Reza
;
Sedmík, Jiří
;
Mazaheri, Neda
...
Journal of Medical Genetics. 58 (2020) 7 - p. 495-504 , 2020
Link:
https://doi.org/10.1136/jmedgenet-2020-107048
RT Journal T1 <Title>Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1136_jmedgenet-2020-107048&Exemplar=1&LAN=DE A1 Maroofian, Reza A1 Sedmík, Jiří A1 Mazaheri, Neda A1 Scala, Marcello A1 Zaki, Maha S A1 Keegan, Liam P A1 Azizimalamiri, Reza A1 Issa, Mahmoud A1 Shariati, Gholamreza A1 Sedaghat, Alireza A1 Beetz, Christian A1 Bauer, Peter A1 Galehdari, Hamid A1 O'Connell, Mary A A1 Houlden, Henry PB BMJ YR 2020 SN 0022-2593 SN 1468-6244 JF Journal of Medical Genetics VO 58 IS 7 SP 495 OP 504 LK http://dx.doi.org/https://doi.org/10.1136/jmedgenet-2020-107048 DO https://doi.org/10.1136/jmedgenet-2020-107048 SF ELIB - SuUB Bremen
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