Presentation
Scientific Publications
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2025
A heterozygous USB1 variant linked to immunodeficiency., J Hum Immun
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2025
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series., Lancet Neurol
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2023
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medu..., Front Mol Biosci
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2023
A 22q13.1 duplication in mosaicism including SOX10., Am J Med Genet A
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2023
A wave of deep intronic mutations in X-linked Alport syndrome., Kidney Int
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2023
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex comp..., Acta Neuropathol Commun
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2017
Mutations in the adaptor-binding domain and associated linker region of p110δ..., Haematologica
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2016
Utility of whole exome sequencing for the early diagnosis of pediatric-onset ..., Orphanet J Rare Dis