publication venue for
- Characterization of a germline variant MSH6 c.4001G > C in a Lynch syndrome family. 2023
- Characterization of the renal phenotype in RMND1-related mitochondrial disease. 2019
- Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxia.. 10. 2022
- Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar.. 8. 2019
- HDAC4 mutations cause diabetes and induce β-cell FoxO1 nuclear exclusion.. 7. 2019
- Clinical genetics and genomic medicine in Qatar.. 6. 2018
- A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. 2022