Majed Dasouki
AdventHealth Orlando(US)
Publications by Year
Research Areas
Immunodeficiency and Autoimmune Disorders, Lysosomal Storage Disorders Research, Genomic variations and chromosomal abnormalities, Blood disorders and treatments, Cystic Fibrosis Research Advances
Most-Cited Works
- → PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome(1999)610 cited
- → Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat(2016)544 cited
- → Metabolomics toward personalized medicine(2017)377 cited
- → Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway(2003)283 cited
- → Gentamicin‐induced readthrough of stop codons in duchenne muscular dystrophy(2010)271 cited
- → DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation(2012)219 cited
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