Associated Papers
Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort.
Tometten M et al.
Blood Advances, 2025
39938003 (PubMed )
Supplement: BLOODA_ADV-2024-014632-mmc1.pdf
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
30552426 (PubMed )
Supplement: 41431_2018_299_MOESM1_ESM.docx
Diffuse hemorrhagic colitis in a patient with dyskeratosis congenita after nonmyeloablative allogeneic hematopoietic stem cell transplantation.
Ehlert K et al.
Journal of Pediatric Hematology/oncology, 2015
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