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0000-0001-5102-975X
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- Journal Article
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- open access
Neonatal cholestasis progressing to a multisystem syndrome with liver cirrhosis in two siblings with FARSA deficiency : an evolving hepatological phenotype
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Retrospective analysis of virtual gene panel analysis for genodermatoses reveals a high diagnostic yield in clinical practice
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- Journal Article
- A1
- open access
Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond
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Unveiling PTPN2 mutations in two families as a novel genetic driver fueling autoimmunity
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Early mechanisms of aortic failure in a zebrafish model for thoracic aortic dissection and rupture
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Early mechanisms of aortic failure in a zebrafish model for thoracic aortic dissection and rupture
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PTPN2 deficiency expands the monogenetic causes of dysregulated JAK/STAT signaling resulting in autoimmunity
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- Miscellaneous
- open access
Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond
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- Conference Paper
- C3
- open access
The clinical use of exome sequencing to diagnose PCD patients
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.385-385 -
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture