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Stefanos-Yakoub, Ilona: Lesion extent negatively impacts intellectual skills in pediatric focal epilepsy / Ilona Stefanos-Yakoub, Kevin Wingeier, Dorottya Cserpan, Antonio Giulio Gennari, Beatrice Latal, Git… , August 2023. - 7 S. : Illustrationen
In: Pediatric neurology, ISSN 1873-5150. 145(2023) vom: Aug., Seite 67-73
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Ahmad, Natalie: De novo variants in RAB11B cause various degrees of lobal developmental delay and intellectual disability in children / Natalie Ahmad, Walid Fazeli, Sophia Schließke, Gaetan Lesca, Zeynep Gokce-Samar, Kedous Y. Mekbib, S… , November 2023. - 8 S.
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Scorrano, Giovanna: A PAK1 mutational hotspot within the regulatory CRIPaK domain is associated with severe neurodevelopmental disorders in children / Giovanna Scorrano, MD, Gianluca D'Onofrio, MD, Andrea Accogli, MD, Mariasavina Severino, MD, Rebecca… , December 2023. - 9 S. : Illustrationen
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Adang, Laura A.: Phenotypic and imaging spectrum associated wth WDR45 / Laura A. Adang, MD, PhD, Amy Pizzino, GC, Alka Malhotra, PhD, Holly Dubbs, GC,Catherine Williams, BS… , 11 March 2020. - 7 S.
In: Pediatric neurology, ISSN 1873-5150. 109(2020), Seite 56-62
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Almannai, Mohammed: 6-Pyruvoyltetrahydropterin synthase deficiency : review and report of 28 Arab subjects / Mohammed Almannai, Rana Felemban, Mohammed A. Saleh, Eissa A. Faqeih, Ali Alasmari, Amal AlHashem, S… , 18 February 2019. - 8 S.
In: Pediatric neurology, ISSN 1873-5150. 96(2019), Seite 40-47
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Schiffmann, Raphael: Fabry disease : a disorder of childhood onset / Raphael Schiffmann, MD, MHSc, Markus Ries, MD, PhD, MHSc, July 2, 2016. - 11 S.
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Ebrahimi-Fakhari, Darius: Recurrent stroke-like episodes in FBXL4-associated early-onset mitochondrial encephalomyopathy / Darius Ebrahimi-Fakhari, Angelika Seitz, Stefan Kölker, Georg F. Hoffmann. - 2 S.
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Ebrahimi-Fakhari, Darius: Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features : clinical observations / Darius Ebrahimi-Fakhari, Bianca Maas, Christian Haneke, Tim Niehues, Katrin Hinderhofer, Birgit E. A… . - 4 S.
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López-Laso, Eduardo: Dyskinesias as a limiting factor in the treatment of segawa disease / Eduardo López-Laso, PhD, Katrin Beyer, PhD, Thomas Opladen, PhD, Rafael Artuch, PhD, Rachel Saunders… . - 3 S.
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Meyer, Sascha: A novel missense mutation in a neonate with nonketotic hyperglycinemia / Sascha Meyer, MD, Cécile Acquaviva, PharmD, Mohammed Ghiath Shamdeen, MD, Dorothea Haas, MD, and Chr… , 6 October 2010. - 5 S.
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