Last Updated: 09/26/2026
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Found 75 publications
Retinopathy in Dyskeratosis Congenita and Related Telomere Biology Disorders: Short Telomere Associated Retinopathy (STAR).
Journal: Ophthalmology. Retina
Published: July 27, 2026
Multi-generational mitochondrial complex V deficiency due to the recurrent ATP5F1A c.620G>A (p.Arg207His) pathogenic variant: A novel family and a review of the literature.
Journal: Molecular genetics and metabolism
Published: April 20, 2026
Somatic genetic rescue in ZCCHC8-associated telomere biology disorders.
Journal: Blood
Published: August 27, 2025
Somatic genetic rescue in ZCCHC8-associated telomere biology disorders.
Journal: Blood
Published: August 27, 2025
The diagnostic performance of the basic versus the detailed telomere Flow FISH test in young patients with aplastic anaemia.
Journal: British journal of haematology
Published: June 02, 2025
RPS19 and RPL5, the most commonly mutated genes in Diamond Blackfan anemia, impact DNA double-strand break repair.
Journal: bioRxiv : the preprint server for biology
Published: October 17, 2024
Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: October 04, 2024
Ethosuximide-associated Aplastic Anemia Likely Due to Drug-induced Lupus Erythematosus: A Case Report With Immunologic Insights.
Journal: Journal of pediatric hematology/oncology
Published: August 23, 2024
Different phenotypes with different endings-Telomere biology disorders and cancer predisposition with long telomeres.
Journal: British journal of haematology
Published: August 21, 2024
Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin.
Journal: Journal of clinical immunology
Published: June 26, 2024
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Journal: The Journal of clinical investigation
Published: April 04, 2024
Last Updated: 09/26/2026