Bianca Panis
Maastricht, LI, Netherlands
Last Updated: 09/26/2026
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Found 16 publications
Reproductive potential in classical galactosemia: A case series based perspective.
Journal: European journal of obstetrics & gynecology and reproductive biology: X
Published: March 01, 2026
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.
Journal: Molecular genetics and metabolism
Published: November 25, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.
Journal: Journal of inherited metabolic disease
Published: April 25, 2025
D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?
Journal: Molecular genetics and metabolism reports
Published: August 21, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Journal: Frontiers in genetics
Published: December 14, 2023
Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients.
Journal: Journal of inherited metabolic disease
Published: October 27, 2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Journal: International journal of neonatal screening
Published: September 10, 2023
Development of tools to facilitate the diagnosis of hereditary fructose intolerance.
Journal: JIMD reports
Published: April 28, 2023
Germline AGO2 mutations impair RNA interference and human neurological development.
Journal: Nature communications
Published: December 28, 2019
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Journal: Journal of medical genetics
Published: September 12, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Journal: American journal of human genetics
Published: November 02, 2018
Last Updated: 09/26/2026