Ali Alothaim
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 8 publications
Accurate determination of Biotinidase activity in serum by HPLC and its utilization as second tier test for the confirmation of initial positive newborn screening results.
Journal: Molecular genetics and metabolism reports
Published: November 25, 2023
Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia.
Journal: Annals of Saudi medicine
Published: April 05, 2022
Cord blood versus heel-stick sampling for measuring thyroid stimulating hormone for newborn screening of congenital hypothyroidism.
Journal: Annals of Saudi medicine
Published: October 04, 2019
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Journal: BMC medical genomics
Published: May 08, 2019
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 28, 2017
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.
Journal: Molecular genetics and metabolism
Published: January 15, 2017
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Journal: European journal of human genetics : EJHG
Published: April 01, 2016
Diabetic ketoacidosis in vanishing white matter.
Journal: Clinical case reports
Published: March 09, 2016
Showing 1-8 of 8
Last Updated: 09/26/2026