Associated Papers
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P et al.
Haematologica, 2021
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
A new in-frame deletion in ribosomal protein S19 in a Chinese infant with Diamond-Blackfan anemia.
Zhang JY et al.
Blood Cells, Molecules & Diseases, 2016
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
Select a paper to view details