Ezzat Elsobky

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

Claudia Dafinger, Max C. Liebau, Solaf M. Elsayed et al. · Journal of Clinical Investigation · 2011 · 208 citations

Specific Brain Malformation, Developmental Biology, Mendelian Disorder +14

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

Shawna M. Pyott, Thao Tran, Dru F. Leistritz et al. · The American Journal of Human Genetics · 2013 · 205 citations · Full text

Bone Disease, Moderately Severe, Developmental Biology +9

Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Aimée L Fenwick, Maciej Kliszczak, Fay Cooper et al. · The American Journal of Human Genetics · 2016 · 116 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +9

Phenotypic and Genetic Characterization of a Cohort of Pediatric Wilson Disease Patients

Tawhida Y. Abdel Ghaffar, Solaf M. Elsayed, Suzan El‐Naghy et al. · BMC Pediatrics · 2011 · 59 citations · Full text

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations

Solaf M. Elsayed, Ezzat Elsobky, Bettina Bochow et al. · Journal of Human Genetics · 2008 · 44 citations · Full text

Egyptian Children, Mendelian Disorder, Genetic Disorder +9