Associated Papers
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 biology and management of dyskeratosis congenita and related disorders of telomeres.
Tummala H et al.
Expert Review of Hematology, 2022
Cancer spectrum and outcomes in the Mendelian short telomere syndromes.
Schratz KE et al.
Blood, 2020
Short telomere syndromes cause a primary T cell immunodeficiency.
Wagner CL et al.
The Journal of Clinical Investigation, 2018
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
27313609 (PubMed )
Supplement: 5614058.f1.pdf
[Molecular diagnosis and therapeutic measures in patients with dyskeratosis congenita].
Reiger Z et al.
Orvosi Hetilap, 2010
Select a paper to view details