Show
Sort by
-
- Journal Article
- A1
- open access
Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome
-
- Journal Article
- A1
- open access
Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1) : chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding
-
- Journal Article
- A1
- open access
Olmsted syndrome : exploration of the immunological phenotype