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Publications by Sarah Williamson
Pathogenicity of C-Terminal Mutations in CDKL5
Journal of Pediatric Epilepsy
Related publications
Novel CDKL5 Mutations Were Found in Patients in China: Retrospective Investigation in Cases of CDKL5-related Disorders
Italian Journal of Pediatrics
Child Health
Pediatrics
Perinatology
Oncogenic C-Terminal Cyclin D1 (CCND1) Mutations Are Enriched in Endometrioid Endometrial Adenocarcinomas
PLoS ONE
Multidisciplinary
Patient-Derived Mutations Impact Pathogenicity of SARS-CoV-2
Two Novel C-Terminal Frameshift Mutations in the Β-Globin Gene Lead to Rapid mRNA Decay
BMC Medical Genetics
Genetics
Genotype-Phenotype Correlations of the Central Core Disease Mutations in the C-Terminal Region of the RyR1 Channel
Biophysical Journal
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Specific NEMO Mutations Impair CD40-mediated C-Rel Activation and B Cell Terminal Differentiation
Journal of Clinical Investigation
Medicine
Bacterial C-Type Cytochromes and Pathogenicity
European Journal of BioMedical Research
Analysis of the Cellular Functions of PTEN Using Catalytic Domain and C-Terminal Mutations: Differential Effects of C-Terminal Deletion on Signalling Pathways Downstream of Phosphoinositide 3-Kinase
Biochemical Journal
Biochemistry
Cell Biology
Molecular Biology
Contribution of Mutations and the C-Terminal Tail to Adenosine a 2A Receptor Activity and Stability
Biophysical Journal
Biophysics
