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Biallelic ADAM22 pathogenic variants cause progressive ence..:
van der Knoop, Marieke M
;
Maroofian, Reza
;
Fukata, Yuko
...
https://discovery.ucl.ac.uk/id/eprint/10146747/1/awac116.pdf. , 2022
Link:
https://discovery.ucl.ac.uk/id/eprint/10146747/1/awac1..
RT Journal T1
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10146747&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 AL 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 MPCD A1 Hiz Kurul, Semra A1 Horvath, Rita A1 Lochmüller, Hanns A1 Murphy, David A1 Waldmüller, Stephan A1 Spranger, Stephanie A1 Overberg, David A1 Muir, Alison M A1 Rad, Aboulfazl A1 Vona, Barbara A1 Abdulwahad, Firdous A1 Maddirevula, Sateesh A1 Povolotskaya, Inna S A1 Voinova, Victoria Y A1 Gowda, Vykuntaraju K A1 Srinivasan, Varunvenkat M A1 Alkuraya, Fowzan S A1 Mefford, Heather C A1 Alfadhel, Majid A1 Haack, Tobias B A1 Striano, Pasquale A1 Severino, Mariasavina A1 Fukata, Masaki A1 Hilhorst-Hofstee, Yvonne A1 Houlden, Henry PB Oxford University Press (OUP) YR 2022 K1 ADAM22 K1 LGI1 K1 developmental and epileptic encephalopathy K1 refractory seizures JF https://discovery.ucl.ac.uk/id/eprint/10146747/1/awac116.pdf LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10146747/1/awac116.pdf DO https://discovery.ucl.ac.uk/id/eprint/10146747/1/awac116.pdf SF ELIB - SuUB Bremen
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