• A naturally occurring canine model of syndromic congenital microphthalmia
• A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country
• Activation of nemo-like kinase in diamond blackfan anemia suppresses early erythropoiesis by preventing mitochondrial biogenesis
• Agranulocytosis in patients with Diamond-Blackfan anaemia (DBA) treated with deferiprone for post-transfusion iron overload: A retrospective study of the French DBA cohort
• Challenges in the management of pregnancy complicated by maternal Diamond Blackfan Anaemia: A case report
• Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1
• Craniofacial Characteristics and Orthodontic Treatment of Diamond Blackfan Syndrome: Two Case Reports
• Dataset for clinical parameters and disease transcriptome networks associated with exposure to citalopram in zebrafish (<em>Danio rerio</em>) larvae
• De Novo Variant in the RPL27 Gene in a Second Infant with Diamond-Blackfan Anemia
• Diamond-Blackfan anaemia with iron overload: A serious issue
• Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
• DNA Methyl Transferase 3A (DNMT3A) Mutation Presenting as Isolated Pure Red Cell Aplasia
• Effect of Glucocorticosteroids in Diamond-Blackfan Anaemia: Maybe Not as Elusive as It Seems
• Endocrine disorders in patients with transfusion-dependent hereditary anemias
• Establishment and characterization of CSCRi006-A: an induced pluripotent stem cell line generated from a patient with Diamond-Blackfan Anemia (DBA) carrying ribosomal protein S19 (RPS19) mutation
• GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease
• Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations
• Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico
• Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia
• Monolobated megakaryocytes in Diamond-Blackfan anemia with RPL5 mutation at disease presentation mimicking myelodysplastic syndrome
• Normal Erythroid Precursors in Diamond-Blackfan Anemia: A Rare Case Highlighting Challenges That Remain
• Ovarian tissue cryopreservation in the pediatric with rare diseases- experience from China's first and the largest ovarian tissue cryobank
• Prevalence and clinical expression of germline predisposition to myeloid neoplasms in adults with marrow hypocellularity
• Pure Red Cell Aplasia Encountered in a Tertiary Care Hematology Laboratory: A Series of Nine Distinctive Cases
• Reduced anti-Müllerian hormone levels in males with inherited bone marrow failure syndromes
• Severe erythroid hypoplasia and erythroblast vacuolization in a male with Brown-Vialetto-Van Laere syndrome 2 misdiagnosed as Diamond Blackfan anemia
• Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag
• Understanding complex disease-related mechanisms: Rational therapies for Diamond-Blackfan anaemia
• Unusual Association of Diamond-Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review
• Utility of Whole Exome Sequencing in the Early Diagnosis of Atypical Diamond-Blackfan Anemia