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BERTUCH, ALISONPerson Why?
Dyskeratosis congenita as a disorder of telomere maintenance.Academic Article Why?
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.Academic Article Why?
Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.Academic Article Why?
Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.Academic Article Why?
TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase.Academic Article Why?
Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita.Academic Article Why?
Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.Academic Article Why?
Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita.Academic Article Why?
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita.Academic Article Why?
Non-myeloablative umbilical cord blood transplantation for atypical dyskeratosis congenita.Academic Article Why?
Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita.Academic Article Why?
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.Academic Article Why?
Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.Academic Article Why?
TIN2L phosphorylation and dyskeratosis congenita pathogenic variants in telomere maintenanceGrant Why?
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