Last Updated: 09/26/2026
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Found 5 publications
A case of mosaic Goltz syndrome in a male baby: Where persistence pays off.
Journal: JAAD case reports
Published: August 08, 2026
Triheptanoin use for severe neonatal cardiomyopathy secondary to mitochondrial trifunctional protein deficiency: a first report.
Journal: Cardiology in the young
Published: January 09, 2025
Reconciling competencies in undergraduate medical genetics education: APHMG versus PCME competencies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 01, 2024
Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.
Journal: American journal of medical genetics. Part A
Published: October 12, 2022
Treatment of ARS deficiencies with specific amino acids.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 18, 2021
Showing 1-5 of 5
Last Updated: 09/26/2026