Found: 4
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4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome.
- Published in:
- 2020
- By:
- Publication type:
- Abstract
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Whole‐exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 5, p. 633, doi. 10.1111/dmcn.15109
- By:
- Publication type:
- Article
Recommendations for Uniform Variant Calling of SARS-CoV-2 Genome Sequence across Bioinformatic Workflows.
- Published in:
- Viruses (1999-4915), 2024, v. 16, n. 3, p. 430, doi. 10.3390/v16030430
- By:
- Publication type:
- Article