2023
Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.
American journal of medical genetics. Part A
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3 publications
2021
Treatment of ARS deficiencies with specific amino acids.
Genetics in medicine : official journal of the American College of Medical Genetics
PubMed • Publisher's site2020
Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.
Journal of personalized medicine
PubMed • Publisher's site