Fatima Almusafri
Hamad Medical Corporation(QA)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Molecular autopsy in maternal–fetal medicine(2017)123 cited
- → Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder(2017)94 cited
- → Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features(2019)52 cited
- → Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis(2020)34 cited
- → Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia(2017)24 cited
- → EP11.13: Prenatal arterial tortuosity syndrome: a de facto late diagnosis(2018)3 cited
- → Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis(2020)1 cited
- → FV 241. Mutations in NFE2L2 Lead to a Novel Treatable Neurological Disorder with Leukoencephalopathy(2018)
- → Response to Hall et al.(2020)
- → EP09.11: Prenatal cephalocentesis: revisit the outcome(2018)