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- Bone marrow cells from patients with Shwachman‐Diamond syndrome abnormally express genes involved in ribosome biogenesis and RNA processing Journal Articles
- Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation Journal Articles
- Do common in silico tools predict the clinical consequences of amino‐acid substitutions in the CFTR gene? 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
- Type of CFTR Mutation Determines Risk of Pancreatitis in Patients With Cystic Fibrosis Journal Articles