Associated Papers
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Moschella B et al.
Genes, 2025
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.
Erken E et al.
Modern Rheumatology, 2015
A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.
Ammann S et al.
Clinical and Experimental Immunology, 2014
The Czech National Diamond-Blackfan Anemia Registry: clinical data and ribosomal protein mutations update.
Pospisilova D et al.
Blood Cells, Molecules & Diseases, 2012
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.
Feldmann J et al.
British Journal of Haematology, 2002
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