Sylvia Safwat
Alexandria, ALX, Egypt
Last Updated: 09/26/2026
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Found 9 publications
Lessons learned from the exome sequencing of nine cases of infertility and the way forward.
Journal: Reproductive biomedicine online
Published: July 28, 2025
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Journal: medRxiv : the preprint server for health sciences
Published: May 27, 2024
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Journal: Neurogenetics
Published: May 03, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 21, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Journal: medRxiv : the preprint server for health sciences
Published: February 26, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Journal: medRxiv : the preprint server for health sciences
Published: July 28, 2023
Showing 1-9 of 9
Last Updated: 09/26/2026