Elsobky, Ezzat S.

Top Publications

Top Publications Authored or Co-Authored by "Elsobky, Ezzat S."

• Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

  Journal of Clinical Investigation, Volume 121, No. 7, Year 2011, Citations 189
• WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta

  American Journal of Human Genetics, Volume 92, No. 4, Year 2013, Citations 187
• Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

  American Journal of Human Genetics, Volume 99, No. 1, Year 2016, Citations 93
• Phenotypic and genetic characterization of a cohort of pediatric wilson disease patients

  BMC Pediatrics, Volume 11, Article 56, Year 2011, Citations 52
• Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 Novel mutations

  Journal of Human Genetics, Volume 53, No. 8, Year 2008, Citations 46