Alice H. Abdelaleem

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 9 publications

Clinical and Molecular characteristics of kidney and urinary tract congenital anomalies in a cohort of Egyptian patients using whole-exome sequencing.

Clinical and Molecular characteristics of kidney and urinary tract congenital anomalies in a cohort of Egyptian patients using whole-exome sequencing.

Journal: Molecular biology reports

Published: January 02, 2026

Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.

Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.

Journal: Scientific reports

Published: April 17, 2025

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Journal: Annals of neurology

Published: March 04, 2025

Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.

Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.

Journal: International journal of molecular sciences

Published: October 09, 2024

Characterization of a loss-of-function NSF attachment protein beta mutation in monozygotic triplets affected with epilepsy and autism using cortical neurons from proband-derived and CRISPR-corrected induced pluripotent stem cell lines.

Characterization of a loss-of-function NSF attachment protein beta mutation in monozygotic triplets affected with epilepsy and autism using cortical neurons from proband-derived and CRISPR-corrected induced pluripotent stem cell lines.

Journal: Frontiers in neuroscience

Published: September 26, 2023

Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.

Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.

Journal: Orphanet journal of rare diseases

Published: October 18, 2022

Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.

Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.

Journal: Neurogenetics

Published: August 09, 2022

Circulating miR-21-5p and miR-126-3p: diagnostic, prognostic value, and multivariate analysis in non-small-cell lung cancer.

Circulating miR-21-5p and miR-126-3p: diagnostic, prognostic value, and multivariate analysis in non-small-cell lung cancer.

Journal: Molecular biology reports

Published: November 16, 2020

Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.

Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.

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

Published: September 26, 2020

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Last Updated: 09/26/2026