Elise Vantroys
Brussels, BRU, Belgium
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications
Prenatal Shwachman-Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the Literature.
Journal: Prenatal diagnosis
Published: July 10, 2025
Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus.
Journal: Prenatal diagnosis
Published: January 02, 2024
Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression.
Journal: PloS one
Published: December 28, 2021
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
Journal: Obstetrics and gynecology
Published: November 10, 2020
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 15, 2020
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT.
Journal: Neurology. Genetics
Published: April 06, 2018
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.
Journal: Orphanet journal of rare diseases
Published: February 08, 2018
New insights into the phenotype of FARS2 deficiency.
Journal: Molecular genetics and metabolism
Published: July 18, 2017
Showing 1-8 of 8
Last Updated: 09/26/2026