Maha A. Faden
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia.
Journal: Orphanet journal of rare diseases
Published: February 15, 2024
KDM5A mutations identified in autism spectrum disorder using forward genetics.
Journal: eLife
Published: March 12, 2020
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Journal: American journal of human genetics
Published: October 05, 2019
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Journal: American journal of human genetics
Published: December 19, 2018
Autozygome and high throughput confirmation of disease genes candidacy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 16, 2018
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
Journal: American journal of human genetics
Published: June 17, 2015
Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.
Journal: Clinical dysmorphology
Published: November 29, 2012
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.
Journal: Journal of medical genetics
Published: November 29, 2011
Showing 1-10 of 10
Last Updated: 09/26/2026