Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
Article in Genes & Nutrition (June 2023)
The most recent citing publications are shown below. View all 17 publications that cite this research output on Dimensions.
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
Article in Human Genetics (April 2023)
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients
Article in Genes (November 2022)