Mahmoud Y. Issa
Cairo, C, Egypt
Last Updated: 09/26/2026
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Found 68 publications
Screening for RPE65 genetic variants in Egyptian children with inherited retinal disorders: a study from a tertiary eye care center in Egypt.
Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: January 23, 2026
Phenotypic and Genetic Characterization of 64 Egyptian Children With Neuronal Ceroid Lipofuscinosis.
Phenotypic and Genetic Characterization of 64 Egyptian Children With Neuronal Ceroid Lipofuscinosis.
Journal: Pediatric neurology
Published: January 05, 2026
Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 05, 2025
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 05, 2025
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing.
Journal: Clinical genetics
Published: February 26, 2025
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.
Journal: Clinical genetics
Published: November 02, 2024
ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.
Journal: Scientific reports
Published: October 02, 2024
Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.
Journal: Prenatal diagnosis
Published: July 23, 2024
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.
Journal: Human genetics
Published: July 17, 2024
Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
Journal: Journal of molecular neuroscience : MN
Published: June 30, 2024
The contribution of de novo coding mutations to meningomyelocele.
Journal: Nature
Published: February 24, 2024
Last Updated: 09/26/2026