ElKhateeb, Nour M.

Top Publications

Top Publications Authored or Co-Authored by "ElKhateeb, Nour M."

• Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

  Brain, Volume 143, No. 10, Year 2020, Citations 88
• Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS

  Clinical Genetics, Volume 104, No. 2, Year 2023, Citations 16
• Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature

  American Journal of Medical Genetics, Part A, Volume 173, No. 10, Year 2017, Citations 13
• Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation

  Annals of Human Genetics, Volume 87, No. 4, Year 2023, Citations 9
• Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis

  Pediatric Nephrology, Volume 37, No. 7, Year 2022, Citations 7