Marwa S. Abd Elmaksoud
Alexandria, ALX, Egypt
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
A Multicenter Integrative Cohort Characterizing the Genetic, Clinical, and Transcriptomic Features of ACP5 Deficiency.
Journal: Arthritis & rheumatology (Hoboken, N.J.)
Published: January 25, 2026
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.
Journal: American journal of human genetics
Published: July 14, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Journal: Brain communications
Published: January 13, 2025
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.
Journal: Journal of human genetics
Published: April 22, 2024
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Journal: American journal of human genetics
Published: May 15, 2023
Lactoferrin versus iron hydroxide polymaltose complex for the treatment of iron deficiency anemia in children with cerebral palsy: a randomized controlled trial.
Journal: European journal of pediatrics
Published: January 14, 2021
Knowledge, Skills, and Attitudes Towards Children with Epilepsy Among Egyptian Parents: A Comparative Cross-Sectional Study.
Journal: Epilepsy research
Published: November 07, 2020
Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A.
Journal: Clinical and experimental dermatology
Published: February 21, 2020
Showing 1-10 of 10
Last Updated: 09/26/2026