Caroline Atef Tawfik

8PUBLICATIONS
3CO-AUTHORS
Optical technologyNeonatologyDevelopmental genetics (incl. sex determination)Neurology and neuromuscular diseasesGenetic immunology
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Publications (8)

|Feb 10, 2026
Clinical, biochemical and genetic characterization of an Egyptian patient with SRD5A3-congenital glycosylation disorder.

Caroline Atef Tawfik, Raghda Zaitoun, Sahar Sabry

|Oct 22, 2025
Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.

Nagham Maher Elbagoury, Mona Lotfi Essawi, Heba Mahmoud Fathy

|Apr 15, 2025
A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.

Caroline Atef Tawfik, Haneen Sabry Aly, Menna Kabeel

|Mar 05, 2025
Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.

Caroline Atef Tawfik, Mona Lotfi Essawi, Mohamed Nowara

|Oct 20, 2023
Prevalence of inherited retinal diseases in a large Egyptian cohort.

Caroline Atef Tawfik, Maged Maher Roshdy, Nancy Magdy Morris

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