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1 Ergebnisse
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Progressive myoclonic epilepsy as an expanding phenotype of..:
Sonoda, Yuri
;
Fujita, Atsushi
;
Torio, Michiko
...
European Journal of Medical Genetics. 67 (2024) - p. 104895 , 2024
Link:
https://doi.org/10.1016/j.ejmg.2023.104895
RT Journal T1
Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ejmg.2023.104895&Exemplar=1&LAN=DE A1 Sonoda, Yuri A1 Fujita, Atsushi A1 Torio, Michiko A1 Mukaino, Takahiko A1 Sakata, Ayumi A1 Matsukura, Masaru A1 Yonemoto, Kousuke A1 Hatae, Ken A1 Ichimiya, Yuko A1 Chong, Pin Fee A1 Ochiai, Masayuki A1 Wada, Yoshinao A1 Kadoya, Machiko A1 Okamoto, Nobuhiko A1 Murakami, Yoshiko A1 Suzuki, Tadashi A1 Isobe, Noriko A1 Shigeto, Hiroshi A1 Matsumoto, Naomichi A1 Sakai, Yasunari A1 Ohga, Shouichi PB Elsevier BV YR 2024 SN 1769-7212 JF European Journal of Medical Genetics VO 67 SP 104895 LK http://dx.doi.org/https://doi.org/10.1016/j.ejmg.2023.104895 DO https://doi.org/10.1016/j.ejmg.2023.104895 SF ELIB - SuUB Bremen
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