Show
Sort by
-
From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection
-
- Journal Article
- A1
- open access
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
-
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 -
- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
-
- Journal Article
- A1
- open access
Efficacy and safety of the investigational complement C5 inhibitor zilucoplan in patients hospitalized with COVID-19 : an open-label randomized controlled trial
-
Chronic intestinal pseudo-obstruction due to beta 2microglobulin-amyloidosis in a patient on high-flux haemodialysis
-
Future perspectives of genome-scale sequencing
-
IRF2BPL is associated with neurological phenotypes
-
Aggressive extensive cardiac mass in an HIV-1-infected patient : should we go for comfort therapy?
-
- Journal Article
- A1
- open access
Gouty arthritis of the spine in a renal transplant patient : a clinical case report: an unusual presentation of a common disease