Detalhe da pesquisa
1.
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.
Hum Mutat
; 40(12): 2414-2429, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31448843
2.
Acute myeloid leukemia in a child with familial platelet disorder and a cryptic runx1 intragenic deletion.
Pediatr Hematol Oncol
; 39(6): 580-585, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35135432
3.
The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.
Mol Cell Biol
; 38(12)2018 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29581185