Suchergebnisse - (Person:"Johannes")

PubPharm (4)

1

SLC6A1 variant pathogenicity, molecular function and phenotype : a genetic and clinical analysis

enthalten in: Brain : a journal of neurology | 2023

von Stefanski, A. | Pérez-Palma, E. | Brünger, T. | +43

2

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

enthalten in: Brain : a journal of neurology | 2023

von Brünger, T. | Pérez-Palma, E. | Montanucci, L. | +10

CommentIn: Epilepsy Curr. 2023 Jan 18;23(2):118-120. - PMID 37122415

3

FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder

enthalten in: EMBO molecular medicine | 2022

von Fell, C. | Hagelkruys, A. | Cicvaric, A. | +26

4

FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder

in: EMBO Molecular Medicine | 2022

von Christopher W Fell | Astrid Hagelkruys | Ana Cicvaric | +26

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