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Material Type: Artigo
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Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus EpilepsyHentrich, Lea ; Parnes, Mered ; Lotze, Timothy Edward ; Coorg, Rohini ; de Koning, Tom J. ; Nguyen, Kha M. ; Yip, Calvin K. ; Jungbluth, Heinz ; Koy, Anne ; Dafsari, Hormos SalimiGenes, 2023-09, Vol.14 (10), p.1860 [Periódico revisado por pares]Basel: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Novel Genetic and Phenotypic Expansion in IGOSR2/I-Related Progressive Myoclonus EpilepsyHentrich, Lea ; Parnes, Mered ; Lotze, Timothy Edward ; Coorg, Rohini ; de Koning, Tom J ; Nguyen, Kha M ; Yip, Calvin K ; Jungbluth, Heinz ; Koy, Anne ; Dafsari, Hormos SalimiGenes, 2023-09, Vol.14 (10) [Periódico revisado por pares]MDPI AGTexto completo disponível |