publicações selecionadas
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artigo académico
- Maternal Tryptophan Supplementation Alters Offspring Gut-Brain Axis and Behavior in a Sex-Specific Manner. Journal of Neurochemistry. 2025
- Disruption of POGZ and Syndromic Intellectual Disability: Report of 4 Portuguese Cases. Acta Scientific Paediatrics. 2024
- An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy. Neurological Sciences. 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
- A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large Dup(2)(q14.3q21.1). Biomedicine. 2022
- Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication. Biomedicine. 2022
- Genomic imbalances defining novel intellectual disability associated loci. Orphanet Journal of Rare Diseases. 2019
- The contribution of 7q33 copy number variations for intellectual disability. Neurogenetics. 2017
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documento
- Maternal Tryptophan Supplementation Changes Offspring Gut-Brain Axis and Behavior in a Sex-Specific Manner 2025
- Sex-dependent cortical morphometric and neurophysiological alterations in a genetic mouse model of tuberous sclerosis complex 2 2024
- Establishing an objective clinical spectrum and genotype-phenotype correlations in the Ellis-van Creveld syndrome: the first systematic review of EVC and EVC2-associated conditions. 2022
- Complexo Esclerose Tuberosa: desafio no diagnóstico e aconselhamento em pré-natal 2022
- Rare hormones in a rare disease: the mutational spectrum of the GNAS gene 2022
- Sugar-lowering drugs for type 2 diabetes mellitus and metabolic syndrome - review of classical and new compounds: Part-I. Pharmaceuticals. 2019
- Sugar-lowering drugs for type 2 diabetes mellitus and metabolic syndromestrategies for in vivo administration: Part-II. International Wound Journal. 2019