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Rebecca Ellmers

Showing results (1-10 of 6) with videos related to

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Brain : a Journal of Neurology|November 16, 2022
In silico versus functional characterization of genetic variants: lessons from muscle channelopathiesVinojini Vivekanandam, Rebecca Ellmers, Dipa Jayaseelan, et al.
Journal of Pediatric Gastroenterology and Nutrition|October 19, 2020
Cholestasis Due to USP53 DeficiencyLaura N Bull, Rebecca Ellmers, Pierre Foskett, et al.
Neuromuscular Disorders : NMD|February 16, 2023
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencingVinojini Vivekanandam, Rawan Jaibaji, Richa Sud, et al.
Acta Neuropathologica Communications|February 18, 2026
Adult presentation of a PLAGL2-amplified neuroepithelial tumor mimicking glioblastoma: broadening the spectrum of a proposed entityZita Reisz, Nikhil Agarwal, Evangelos Anagnostou, et al.
Pathology Oncology Research : POR|May 20, 2026
Case Report: The molecular profile of granular cell astrocytoma predicts aggressive clinical behavior, independent of morphologyMelanie Jensen, Pranoy Das, Oliver Wroe-Wright, et al.
Nature Communications|November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencingWilliam L Macken, Micol Falabella, Caroline McKittrick, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Brain : a Journal of Neurology|November 16, 2022
In silico versus functional characterization of genetic variants: lessons from muscle channelopathiesVinojini Vivekanandam, Rebecca Ellmers, Dipa Jayaseelan, et al.
Journal of Pediatric Gastroenterology and Nutrition|October 19, 2020
Cholestasis Due to USP53 DeficiencyLaura N Bull, Rebecca Ellmers, Pierre Foskett, et al.
Neuromuscular Disorders : NMD|February 16, 2023
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencingVinojini Vivekanandam, Rawan Jaibaji, Richa Sud, et al.
Acta Neuropathologica Communications|February 18, 2026
Adult presentation of a PLAGL2-amplified neuroepithelial tumor mimicking glioblastoma: broadening the spectrum of a proposed entityZita Reisz, Nikhil Agarwal, Evangelos Anagnostou, et al.
Pathology Oncology Research : POR|May 20, 2026
Case Report: The molecular profile of granular cell astrocytoma predicts aggressive clinical behavior, independent of morphologyMelanie Jensen, Pranoy Das, Oliver Wroe-Wright, et al.
Nature Communications|November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencingWilliam L Macken, Micol Falabella, Caroline McKittrick, et al.
Pageof 1