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Last Updated: 10/31/2025
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Found 936 publications
Clinical Analysis of Dyskeratosis Congenita in Children
Journal: Zhongguo shi yan xue ye xue za zhi
Published: July 04, 2025
Avascular Necrosis and Minimal Trauma Fractures in Telomere Biology Disorders.
Journal: Clinical genetics
Published: June 16, 2025
Interprotomer Communication and Functional Asymmetry in H/ACA snoRNPs.
Journal: bioRxiv : the preprint server for biology
Published: June 12, 2025
Dyskeratosis congenita combined with myeloproliferative disorder and trilineage cytopenia
Journal: Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases
Published: June 10, 2025
Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.
Journal: Orphanet journal of rare diseases
Published: June 06, 2025
RNA Analysis Uncovers Pathogenic PARN Variant in Dyskeratosis Congenita.
Journal: Clinical genetics
Published: May 07, 2025
Structural Biology of Telomerase and Associated Factors.
Journal: Cold Spring Harbor perspectives in biology
Published: April 15, 2025
Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita.
Journal: Science advances
Published: April 11, 2025
Familial pulmonary fibrosis with dyskeratosis congenita associated with a rare RTEL1 gene mutation.
Journal: BMJ case reports
Published: April 08, 2025
Dyskeratosis Congenita Complicated by Pulmonary Fibrosis and Myelodysplastic Syndrome with a Germline Mutation of the DKC1 Gene and a Somatic Mutation of the U2AF1 Gene in Leukocytes.
Journal: Internal medicine (Tokyo, Japan)
Published: April 06, 2025
Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders.
Journal: Scientific reports
Published: March 26, 2025
Bilateral, recurrent Cytomegalovirus retinitis in Dyskeratosis congenita healing with extensive dystrophic calcification.
Journal: International ophthalmology
Published: March 22, 2025
Last Updated: 10/31/2025