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1 Ergebnisse
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Biallelic ADAM22 pathogenic variants cause progressive ence..:
van der Knoop, Marieke M
;
Maroofian, Reza
;
Fukata, Yuko
...
Brain. 145 (2022) 7 - p. 2301-2312 , 2022
Link:
https://doi.org/10.1093/brain/awac116
RT Journal T1
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_brain_awac116&Exemplar=1&LAN=DE A1 van der Knoop, Marieke M A1 Maroofian, Reza A1 Fukata, Yuko A1 van Ierland, Yvette A1 Karimiani, Ehsan G A1 Lehesjoki, Anna Elina A1 Muona, Mikko A1 Paetau, Anders A1 Miyazaki, Yuri A1 Hirano, Yoko A1 Selim, Laila A1 de França, Marina A1 Fock, Rodrigo Ambrosio A1 Beetz, Christian A1 Ruivenkamp, Claudia A L A1 Eaton, Alison J A1 Morneau-Jacob, Francois D A1 Sagi-Dain, Lena A1 Shemer-Meiri, Lilach A1 Peleg, Amir A1 Haddad-Halloun, Jumana A1 Kamphuis, Daan J A1 Peeters-Scholte, Cacha M P C D A1 Kurul, Semra Hiz A1 Horvath, Rita A1 Lochmüller, Hanns A1 Murphy, David A1 Waldmüller, Stephan A1 Spranger, Stephanie A1 Overberg, David PB Oxford University Press (OUP) YR 2022 SN 0006-8950 SN 1460-2156 JF Brain VO 145 IS 7 SP 2301 OP 2312 LK http://dx.doi.org/https://doi.org/10.1093/brain/awac116 DO https://doi.org/10.1093/brain/awac116 SF ELIB - SuUB Bremen
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