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Gert Matthijs

Katholieke Universiteit Leuven

483

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16115

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Expanded carrier screening in Flanders (Belgium): an online survey on the perspectives of nonpregnant reproductive-aged women.

2021 Personalized Medicine
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SLC37A4‐CDG: Second patient

2021
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Phenotypes and genotypes in outbred and inbred Primary microcephaly: high incidence of epilepsy

2021
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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.

2021 American Journal of Human Genetics
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B1MG D3.1 - Quality metrics for sequencing

2021
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The evolving genetic landscape of congenital disorders of glycosylation.

2021 Biochimica et Biophysica Acta
- Matthew P. Wilson
- Gert Matthijs
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Congenital Disorders of Glycosylation in Portugal – Two Decades of Experience

2020 The Journal of Pediatrics
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Aberrant Sialylation in a Patient with a HNF1α Variant and Liver Adenomatosis

2020
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SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card.

2020 European Journal of Human Genetics
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Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

2019 Proceedings of the National Academy of Sciences of the United States of America
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Citations (37)