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Last Updated: 01/07/2026
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Found 940 publications
Clinical and genetic characteristics of 6 cases of congenital dyskeratosis in children
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: November 13, 2025
Fueling for the finish line: Control of human telomerase activity by nucleotide metabolism.
Journal: DNA repair
Published: September 09, 2025
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
Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.
Journal: American journal of medical genetics. Part A
Published: April 25, 2025
Segmental dyskeratosis congenita - A diagnostic challenge.
Journal: Anais brasileiros de dermatologia
Published: April 22, 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
Last Updated: 01/07/2026