subject area of
- A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL Journal Articles
- Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis Journal Articles
- Arthroscopic Treatment of Synovial Lipomatosis of the Hip, With Concurrent Femoroacetabular Impingement Journal Articles
- Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation Journal Articles
- Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations Journal Articles
- Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis Journal Articles
- Multiple submucosal ileal lipomas. Journal Articles
- Symptomatic Lumbar Epidural Lipomatosis in a Normal Male A Unique Case Report Journal Articles