Abeer Al Tuwaijri

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 28 publications

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) with ocular involvement due to a novel CLDN19 variant.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) with ocular involvement due to a novel CLDN19 variant.

Journal: Ophthalmic genetics

Published: August 24, 2026

DNAJC17 deficiency: A novel inborn error of immunity with TNF-driven autoinflammation.

DNAJC17 deficiency: A novel inborn error of immunity with TNF-driven autoinflammation.

Journal: Frontiers in immunology

Published: November 22, 2025

Heptapharmacological activity of Quercetin-3-O-phosphate against lung cancer pathways.

Heptapharmacological activity of Quercetin-3-O-phosphate against lung cancer pathways.

Journal: PloS one

Published: October 02, 2025

Phenotypic Heterogeneity in CD40 Ligand Deficiency: Long-term Follow-up of a Patient with the c.156G > A Splice Variant.

Phenotypic Heterogeneity in CD40 Ligand Deficiency: Long-term Follow-up of a Patient with the c.156G > A Splice Variant.

Journal: Journal of clinical immunology

Published: September 28, 2025

Clinical exome sequencing identifies novel gene variants associated with ischemic stroke in the Saudi Tabuk population.

Clinical exome sequencing identifies novel gene variants associated with ischemic stroke in the Saudi Tabuk population.

Journal: Frontiers in human neuroscience

Published: June 12, 2025

Unveiling the Polypharmacological Potency of FDA-Approved Rebamipide for Alzheimer's Disease.

Unveiling the Polypharmacological Potency of FDA-Approved Rebamipide for Alzheimer's Disease.

Journal: Pharmaceuticals (Basel, Switzerland)

Published: March 17, 2025

Lucidin from Rubia cordifolia Outperforms FDA-Approved Lapatinib as a Potential Multitargeted Candidate for Breast Cancer Signalling Proteins.

Lucidin from Rubia cordifolia Outperforms FDA-Approved Lapatinib as a Potential Multitargeted Candidate for Breast Cancer Signalling Proteins.

Journal: Pharmaceuticals (Basel, Switzerland)

Published: December 10, 2024

Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder.

Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder.

Journal: Molecular genetics & genomic medicine

Published: March 02, 2024

Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features.

Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic features.

Journal: Heliyon

Published: February 07, 2024

The diagnostic yield of CGH and WES in neurodevelopmental disorders.

The diagnostic yield of CGH and WES in neurodevelopmental disorders.

Journal: Frontiers in pediatrics

Published: December 29, 2022

Identification of novel interacts partners of ADAR1 enzyme mediating the oncogenic process in aggressive breast cancer.

Identification of novel interacts partners of ADAR1 enzyme mediating the oncogenic process in aggressive breast cancer.

Journal: Scientific reports

Published: December 12, 2022

Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.

Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype.

Journal: Molecular genetics & genomic medicine

Published: September 25, 2022

Showing 1-12 of 28

Last Updated: 09/26/2026