Department of Pediatrics and medical genetics
4843 publications
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An infant presenting with failure to thrive and hyperkalaemia owing to transient pseudohypoaldosteronism : case report
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Missing heritability in inherited blindness : ABCA4-associated disease as a model
(2018) -
- journalArticle
- open access
Event-free survival of infants and toddlers enrolled in the HR-NBL-1/SIOPEN trial is associated with the level of neuroblastoma mRNAs at diagnosis
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- journalArticle
- open access
Risk stratification of high-risk metastatic neuroblastoma: A report from the HR-NBL-1/SIOPEN study
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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
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Cardiovascular imaging in Turner syndrome: state-of-the-art practice across the lifespan
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A novel LRBA mutation presents with normal CTLA-4 and overactive Th17 immunity
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- journalArticle
- open access
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.
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- journalArticle
- open access
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
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- bookChapter
- open access
Vascular Ehlers Danlos Syndrome