Hoda A. Ahmed

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 12 publications

Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.

Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.

Journal: Molecular biology reports

Published: January 13, 2026

Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.

Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.

Journal: Molecular biology reports

Published: July 15, 2025

Correction to: Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene.

Correction to: Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene.

Journal: Journal of molecular neuroscience : MN

Published: May 31, 2024

Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.

Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.

Journal: Molecular biology reports

Published: March 28, 2024

Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature.

Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature.

Journal: Journal, genetic engineering & biotechnology

Published: March 17, 2024

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

Journal: Molecular neurobiology

Published: June 01, 2023

Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.

Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.

Journal: Journal of molecular neuroscience : MN

Published: September 16, 2022

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Journal: Genes

Published: May 12, 2022

A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.

A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.

Journal: American journal of medical genetics. Part A

Published: March 30, 2022

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.

Journal: Genes

Published: August 03, 2021

Primary hyperoxaluria type 1 in children: Clinical classification, renal replacement therapy, and outcome in a single centre experience.

Primary hyperoxaluria type 1 in children: Clinical classification, renal replacement therapy, and outcome in a single centre experience.

Journal: Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy

Published: March 09, 2021

Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.

Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.

Journal: Molecular genetics & genomic medicine

Published: September 18, 2020

Showing 1-12 of 12

Last Updated: 09/26/2026