Omar Z. Tutakhel
Nijmegen, GE 6525GA, Netherlands
Last Updated: 09/26/2026
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Found 10 publications
Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia.
Journal: American journal of human genetics
Published: June 27, 2025
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: April 21, 2023
Comparing Approaches to Normalize, Quantify, and Characterize Urinary Extracellular Vesicles.
Journal: Journal of the American Society of Nephrology : JASN
Published: August 07, 2020
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Journal: Human mutation
Published: July 16, 2020
Role of the alternative splice variant of NCC in blood pressure control.
Journal: Channels (Austin, Tex.)
Published: September 29, 2018
Effects of a high-sodium/low-potassium diet on renal calcium, magnesium, and phosphate handling.
Journal: American journal of physiology. Renal physiology
Published: January 24, 2018
Hydrochlorothiazide treatment increases the abundance of the NaCl cotransporter in urinary extracellular vesicles of essential hypertensive patients.
Journal: American journal of physiology. Renal physiology
Published: December 05, 2016
Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay.
Journal: American journal of physiology. Renal physiology
Published: February 29, 2016
Alternative splice variant of the thiazide-sensitive NaCl cotransporter: a novel player in renal salt handling.
Journal: American journal of physiology. Renal physiology
Published: September 23, 2015
Showing 1-10 of 10
Last Updated: 09/26/2026