Last Updated: 09/26/2026
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Found 112 publications
Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.
Journal: EJHaem
Published: September 09, 2024
Reduced anti-Müllerian hormone levels in males with inherited bone marrow failure syndromes.
Journal: Endocrine connections
Published: December 05, 2023
Differential diagnosis of bone marrow failure syndromes guided by machine learning.
Journal: Blood
Published: June 22, 2022
Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19.
Journal: Frontiers in genetics
Published: April 06, 2022
The incidence and spectrum of congenital hand differences in patients with Fanconi anaemia: analysis of 48 patients.
Journal: The Journal of hand surgery, European volume
Published: April 01, 2022
Fanconi anaemia: A syndrome with distinct subgroups.
Journal: British journal of haematology
Published: December 02, 2021
Disease progression and clinical outcomes in telomere biology disorders.
Journal: Blood
Published: July 29, 2021
Risk of cancer in heterozygous relatives of patients with Fanconi anemia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 10, 2021
Last Updated: 09/26/2026