Ghada H. Salam-Abdel

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 103 publications

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

A Further Case Supporting BORCS8 as a Cause of an Infantile-Onset Neurodegenerative Disorder.

A Further Case Supporting BORCS8 as a Cause of an Infantile-Onset Neurodegenerative Disorder.

Journal: Clinical genetics

Published: August 12, 2025

MINPP1-Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation.

MINPP1-Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation.

Journal: Clinical genetics

Published: August 11, 2025

MINPP1 -Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation.

MINPP1 -Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation.

Journal: Clinical genetics

Published: August 11, 2025

A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype.

A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype.

Journal: Journal of human genetics

Published: August 03, 2025

EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations.

EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations.

Journal: Journal of molecular neuroscience : MN

Published: July 22, 2025

Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients.

Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients.

Journal: Journal of medical genetics

Published: July 02, 2025

New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.

New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: December 10, 2024

Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB -Related Neurodevelopmental Disorders.

Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB -Related Neurodevelopmental Disorders.

Journal: Clinical genetics

Published: November 24, 2024

Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients.

Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients.

Journal: BMC pediatrics

Published: October 24, 2024

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

Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings.

Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings.

Journal: Journal of human genetics

Published: July 02, 2024

Showing 1-12 of 103

Last Updated: 09/26/2026