Associated Papers
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Welters A et al.
Orphanet Journal of Rare Diseases, 2023
37974153 (PubMed )
Supplement: 13023_2023_2954_MOESM1_ESM.pdf
Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline.
Nath S et al.
Human Genome Variation, 2022
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).
Friedman D et al.
Npj Genomic Medicine, 2018
29619247 (PubMed )
Supplement: 41525_2018_48_MOESM2_ESM.xlsx › Sheet1
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