Alaa Altalbishi

St John Of Jerusalem Eye Hospital
Palestine

Last Updated: 09/26/2026

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Found 11 publications

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.

Journal: Investigative ophthalmology & visual science

Published: February 21, 2025

Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.

Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.

Journal: American journal of ophthalmology

Published: January 03, 2025

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

Journal: European journal of human genetics : EJHG

Published: May 02, 2024

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Journal: Biomolecules

Published: January 29, 2024

Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.

Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.

Journal: American journal of ophthalmology

Published: April 14, 2023

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.

Journal: American journal of ophthalmology

Published: July 07, 2022

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.

Journal: Investigative ophthalmology & visual science

Published: April 27, 2022

SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.

SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.

Journal: Retina (Philadelphia, Pa.)

Published: January 29, 2021

Swept-source optical coherence tomography changes and visual acuity among Palestinian retinitis Pigmentosa patients: a cross-sectional study.

Swept-source optical coherence tomography changes and visual acuity among Palestinian retinitis Pigmentosa patients: a cross-sectional study.

Journal: BMC ophthalmology

Published: November 13, 2020

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

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

Published: November 26, 2019

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.

Journal: Scientific reports

Published: October 02, 2018

Showing 1-11 of 11

Last Updated: 09/26/2026