Nawal Makhseed
Jahra Hospital(KW)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomics and Rare Diseases, Lysosomal Storage Disorders Research, Genomic variations and chromosomal abnormalities, Neonatal Health and Biochemistry
Most-Cited Works
- → The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes(2017)300 cited
- → Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population(2019)279 cited
- → Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options(2015)67 cited
- → A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients(2018)63 cited
- → KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect(2018)58 cited
- → Molecular and clinical spectra of FBXL4 deficiency(2017)55 cited
- → Guidelines for acute management of hyperammonemia in the Middle East region(2016)47 cited
- → Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group(2015)42 cited
- → Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene(2016)35 cited