Sumaya Alkanderi
Central Parkway, NE1 3BZ
Newcastle Upon Tyne, ENG, United Kingdom
Newcastle Upon Tyne, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.
Journal: Endocrine connections
Published: April 06, 2020
Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report.
Journal: Kidney & blood pressure research
Published: March 18, 2019
Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts.
Journal: Scientific reports
Published: January 29, 2019
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: November 18, 2018
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Journal: American journal of human genetics
Published: June 12, 2018
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.
Journal: European journal of human genetics : EJHG
Published: March 23, 2018
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
Journal: Journal of the American Society of Nephrology : JASN
Published: August 05, 2017
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.
Journal: Human molecular genetics
Published: May 23, 2017
Lessons learned from a multidisciplinary renal genetics clinic.
Journal: QJM : monthly journal of the Association of Physicians
Published: October 22, 2016
Showing 1-9 of 9
Last Updated: 09/26/2026