Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 1019 publications
Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.
Journal: Orphanet journal of rare diseases
Published: June 06, 2025
A de novo nonsense variant in RPS10 causes Diamond-Blackfan anaemia in an Indian patient: clinical and functional evidence.
Journal: Molecular genetics and genomics : MGG
Published: May 21, 2025
Diamond-Blackfan anaemia presents as pathological foetal CTG and severe neonatal anaemia.
Journal: BMJ case reports
Published: April 15, 2025
Diagnosis and treatment of Diamond-Blackfan anemia and Pierre-Robin sequence caused by a novel mutation of RPS28 gene.
Journal: Hematology (Amsterdam, Netherlands)
Published: March 26, 2025
Ribosome specialization by cancer-associated ribosomal protein mutations: progress made and open questions.
Journal: Philosophical transactions of the Royal Society of London. Series B, Biological sciences
Published: March 06, 2025
Spectrum of Pure Red Cell Aplasia in a Tertiary Care Hospital in Northeast India.
Journal: Cureus
Published: February 20, 2025
RPS24 haploinsufficiency impairs erythropoiesis in the Diamond-Blackfan anemia zebrafish model via the STAT6-SATB1 pathway.
Journal: Biochemical and biophysical research communications
Published: January 31, 2025
Unveiling the role of RPS17 and SLC4A1 in diamond-Blackfan Anemia: A zebrafish-based study.
Journal: Blood cells, molecules & diseases
Published: January 11, 2025
Last Updated: 10/31/2025