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From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection
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IRF2BPL is associated with neurological phenotypes
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Safety and sample adequacy of renal transplant surveillance biopsies
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- PhD Thesis
- open access
Screening for Fabry disease: indications, methods and implications
(2013) -
- Book Chapter
- open access
Questioning the pathogenic role of the GLA p.Ala143Thr 'mutation' in Fabry disease: implications for screening studies and ERT
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Phenytoin intoxication in critically ill patients
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Delayed graft function in renal transplantation