A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy
Vaz, Raquel, Wincent, Josephine, Elfissi, Najla, Rosengren Forsblad, Kristina, Pettersson, Maria, Naess, Karin, Wedell, Anna, Wredenberg, Anna, Lindstrand, Anna, Ygberg, Sofia
Published in Biomedicines (07.12.2022)
Published in Biomedicines (07.12.2022)
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Journal Article
The puzzling finding of disturbed neuromuscular transmission in Gaucher disease: A case report and review of the literature
Beretta, Francesca, Forsblad, Kristina Rosengren, Ferrarese, Carlo, Punga, Anna Rostedt
Published in Journal of the neurological sciences (01.10.2021)
Published in Journal of the neurological sciences (01.10.2021)
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Journal Article
A Missense Variant in IPDK1/I Associated with Severe Neurodevelopmental Delay and Epilepsy
Vaz, Raquel, Wincent, Josephine, Elfissi, Najla, Rosengren Forsblad, Kristina, Pettersson, Maria, Naess, Karin, Wedell, Anna, Wredenberg, Anna, Lindstrand, Anna, Ygberg, Sofia
Published in Biomedicines (01.12.2022)
Published in Biomedicines (01.12.2022)
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Journal Article