Charlotte A Haaxma

3PUBLICATIONS
36CO-AUTHORS
Neurology and neuromuscular diseasesNeonatologyNeurogenetics
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Publications (3)

|Jul 17, 2026
NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

|Jul 27, 2024
Mutations in Genes Encoding Subunits of the RNA Exosome as a Potential Novel Cause of Thrombotic Microangiopathy.

Kioa L Wijnsma, Anne M Schijvens, Romy N Bouwmeester

|Jun 21, 2023
Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.

Bibiche den Hollander, Marion M Brands, Lonneke de Boer

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Frequent Collaborators

1 joint publications

Bibiche den Hollander

1 joint publications

Marion M Brands

1 joint publications

Anna Lengyel

1 joint publications

Peter van Essen