Faiqa Imtiaz

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 56 publications

Building genomic medicine in Saudi Arabia.

Building genomic medicine in Saudi Arabia.

Journal: Nature genetics

Published: February 10, 2026

Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary Board.

Transforming Prenatal Care in a Highly Inbred Population: Impact of a Multidisciplinary Board.

Journal: Prenatal diagnosis

Published: September 11, 2025

Detection of Chromosomal Aneuploidy Using Exome Sequencing.

Detection of Chromosomal Aneuploidy Using Exome Sequencing.

Journal: Genes

Published: June 11, 2025

The Generation of Two Induced Pluripotent Cell Lines from Patients with an Atypical Familial Form of Lung Fibrosis.

The Generation of Two Induced Pluripotent Cell Lines from Patients with an Atypical Familial Form of Lung Fibrosis.

Journal: Cells

Published: April 22, 2025

ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.

ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.

Journal: Genes

Published: August 02, 2024

Clinical and molecular characterization of familial chylomicronemia in Saudi patients: a retrospective study.

Clinical and molecular characterization of familial chylomicronemia in Saudi patients: a retrospective study.

Journal: Frontiers in endocrinology

Published: May 28, 2024

Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia.

Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia.

Journal: Frontiers in endocrinology

Published: January 04, 2024

Long-Term Treatment for Laron Syndrome with IGF-1 Injection over 22 Years in Saudi Arabia: A Cohort Study.

Long-Term Treatment for Laron Syndrome with IGF-1 Injection over 22 Years in Saudi Arabia: A Cohort Study.

Journal: Hormone research in paediatrics

Published: December 31, 2023

Wild-type S100A3 and S100A13 restore calcium homeostasis and mitigate mitochondrial dysregulation in pulmonary fibrosis patient-derived cells.

Wild-type S100A3 and S100A13 restore calcium homeostasis and mitigate mitochondrial dysregulation in pulmonary fibrosis patient-derived cells.

Journal: Frontiers in cell and developmental biology

Published: August 25, 2023

Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.

Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.

Journal: Genetic testing and molecular biomarkers

Published: May 31, 2023

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Journal: Nature medicine

Published: October 21, 2022

Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.

Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.

Journal: Genes

Published: August 06, 2022

Showing 1-12 of 56

Last Updated: 09/26/2026