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Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
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- Neurogenetics, 2021, v. 22, n. 1, p. 19, doi. 10.1007/s10048-020-00625-2
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- Article
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1248, doi. 10.3390/ijms25021248
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- Article
PIGW‐related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1477, doi. 10.1002/ajmg.a.61555
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- Article