Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
2020 · Nature Communications · 53 citations
https://doi.org/10.1038/s41467-020-14360-7
Marvell (Israel)(IL)
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11
Papers
318
Citations
5
h-index
4
i10-index
Célia Bosso-Lefèvre is an academic researcher from Marvell (Israel). The author has contributed to research in topics: Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders & Cellular transport and secretion. The author has an h-index of 5, co-authored 10 publications.
ORCID: 0000-0003-3932-1197https://doi.org/10.1038/s41467-020-14360-7
https://doi.org/10.2144/btn-2022-0077
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