publicações selecionadas
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artigo académico
- Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of Spinocerebellar ataxia type 3. Journal of Clinical Investigation. 2024
- Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V. Pediatric Research. 2023
- Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients. Endocrine, Metabolic & Immune Disorders - Drug Targets. 2023
- Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions. Genetics in Medicine Open. 2023
- Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders. Frontiers in Neurology. 2021
- Loss of egli-1, the Caenorhabditis elegans Orthologue of a Downstream Target of SMN, Leads to Abnormalities in Sensorimotor Integration. Molecular Neurobiology. 2020
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artigo de revista
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documento