Hasnaa M. Elbendary

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 32 publications

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

Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva.

Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva.

Journal: Clinical dysmorphology

Published: August 28, 2025

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

Journal: American journal of human genetics

Published: July 14, 2025

PIGC-related encephalopathy: Lessons learned from 18 new probands.

PIGC-related encephalopathy: Lessons learned from 18 new probands.

Journal: European journal of human genetics : EJHG

Published: January 19, 2025

ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.

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

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

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 07, 2023

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Journal: Clinical genetics

Published: October 24, 2023

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

Journal: Brain : a journal of neurology

Published: October 06, 2023

Erratum to ' Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission' [Seizure Volume 106, March 2023, Pages 68-75].

Erratum to ' Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission' [Seizure Volume 106, March 2023, Pages 68-75].

Journal: Seizure

Published: August 28, 2023

Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.

Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.

Journal: Journal of inherited metabolic disease

Published: June 07, 2023

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.

Journal: Journal of molecular neuroscience : MN

Published: May 16, 2023

Showing 1-12 of 32

Last Updated: 09/26/2026