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Development and validation of a tool for ambulatory monitoring of peripherally inserted central catheter-associated complications
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Intermediate uveitis in common variable immunodeficiency (CVID) associated with a heterozygous variant in the TNFRSF13B gene
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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1353-1354 -
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Efficacy and safety of respiratory syncytial virus (RSV) prefusion F protein vaccine (RSVPreF3 OA) in older adults over 2 RSV seasons
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From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection
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- Journal Article
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- open access
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
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Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80 -
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Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
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- Journal Article
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Efficacy and safety of the investigational complement C5 inhibitor zilucoplan in patients hospitalized with COVID-19 : an open-label randomized controlled trial
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Chronic intestinal pseudo-obstruction due to beta 2microglobulin-amyloidosis in a patient on high-flux haemodialysis