Publications by the researcher in collaboration with Sofía Barbosa Gouveia (4)

2023

  1. Maturity-onset diabetes of the young in a large Portuguese cohort

    Acta Diabetologica, Vol. 60, Núm. 1, pp. 83-91

2022

  1. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

    Journal of Clinical Medicine, Vol. 11, Núm. 10

  2. Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105

2021

  1. Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome

    International Journal of Molecular Sciences, Vol. 22, Núm. 24