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Brain : a Journal of Neurology
|
November 16, 2022
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies
Vinojini Vivekanandam, Rebecca Ellmers, Dipa Jayaseelan, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
October 19, 2020
Cholestasis Due to USP53 Deficiency
Laura 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 sequencing
Vinojini 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 entity
Zita 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 morphology
Melanie Jensen, Pranoy Das, Oliver Wroe-Wright, et al.
Nature Communications
|
November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
William L Macken, Micol Falabella, Caroline McKittrick, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
Brain : a Journal of Neurology
|
November 16, 2022
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies
Vinojini Vivekanandam, Rebecca Ellmers, Dipa Jayaseelan, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
October 19, 2020
Cholestasis Due to USP53 Deficiency
Laura 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 sequencing
Vinojini 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 entity
Zita 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 morphology
Melanie Jensen, Pranoy Das, Oliver Wroe-Wright, et al.
Nature Communications
|
November 7, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
William L Macken, Micol Falabella, Caroline McKittrick, et al.
Page
of 1