Last Updated: 09/26/2026
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Found 9 publications
Delayed Diagnosis of a Rare Metabolic Disorder in Adulthood.
Journal: The journal of applied laboratory medicine
Published: September 26, 2025
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 02, 2025
C4OH-carnitine: an important marker of ketosis in patients with and without inborn errors of metabolism.
Journal: Molecular genetics and metabolism
Published: March 02, 2025
How to turn "minority tax" into "minority capital".
Journal: Genetics in medicine open
Published: August 13, 2024
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Journal: Molecular genetics and metabolism
Published: April 27, 2023
Words matter: The language of difference in human genetics.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 13, 2022
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Journal: European journal of human genetics : EJHG
Published: October 09, 2020
Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: October 23, 2019
Elastin-driven genetic diseases.
Journal: Matrix biology : journal of the International Society for Matrix Biology
Published: November 06, 2017
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Last Updated: 09/26/2026