Ola Khalifa
Ain Shams University(EG)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Folate and B Vitamins Research, Connective tissue disorders research, Skin and Cellular Biology Research
Most-Cited Works
- → Molecular autopsy in maternal–fetal medicine(2017)123 cited
- → Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families(2015)121 cited
- → Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue(2016)111 cited
- → Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature(2015)50 cited
- → Genotype–phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants(2017)38 cited
- → KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia(2016)29 cited
- → Exome sequencing identifies novel NTRK1 mutations in patients with HSAN‐IV phenotype(2017)28 cited
- → Genotype–phenotype correlation of 33 patients with maple syrup urine disease(2020)18 cited
- → Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1(2019)17 cited
- → A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene: Figure 1(2012)16 cited