Shahad Bawazeer
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
Mutation of NDUFAF2 Linked to Mitochondrial Complex I Deficiency.
Journal: Cureus
Published: June 23, 2025
Novel de novo heterozygous CACNA1A gene variant in generalised dystonia: a case report.
Journal: BMJ neurology open
Published: May 26, 2024
CffDNA screening for Niemann-pick disease, type C1: a case series.
Journal: Frontiers in medicine
Published: February 23, 2024
Non-invasive prenatal testing: a revolutionary journey in prenatal testing.
Journal: Frontiers in medicine
Published: July 21, 2023
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 10, 2022
Knowledge and attitudes regarding non-invasive prenatal testing among women in Saudi Arabia.
Journal: Prenatal diagnosis
Published: November 07, 2020
Tetrasomy 18p: case report and review of literature.
Journal: The application of clinical genetics
Published: February 23, 2018
Preparation of anastrozole loaded PEG-PLA nanoparticles: evaluation of apoptotic response of breast cancer cell lines.
Journal: International journal of nanomedicine
Published: January 19, 2018
A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.
Journal: Journal of medical genetics
Published: June 22, 2016
Showing 1-9 of 9
Last Updated: 09/26/2026