Suchergebnisse - "ERCC6L2 protein, human"

PubPharm (21)

1

First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene

enthalten in: British journal of haematology | 2023

von Bandini, P. | Borràs, N. | Fernandez Mellid, E. | +9

2

Human leucocyte antigen-matched related haematopoietic stem cell transplantation using low-dose cyclophosphamide, fludarabine and thymoglobulin in children with severe aplastic anaemia

enthalten in: British journal of haematology | 2023

von Alsultan, A. | Abujoub, R. | Alsudairy, R. | +7

3

The clinical picture of ERCC6L2 disease : from bone marrow failure to acute leukemia

enthalten in: Blood | 2023

von Hakkarainen, M. | Kaaja, I. | Douglas, S. | +26

CommentIn: Blood. 2023 Jun 8;141(23):2788-2789. - PMID 37289478

4

ERCC6L2 syndrome : attack of the TP53 clones

enthalten in: Blood | 2023

von Wlodarski, M.

CommentOn: Blood. 2023 Jun 8;141(23):2853-2866. - PMID 36952636

5

ERCC6L2 mitigates replication stress and promotes centromere stability

enthalten in: Cell reports | 2023

von Carnie, C. | Armstrong, L. | Sebesta, M. | +5

6

ERCC6L2-related disease : a novel entity of bone marrow failure disorder with high risk of clonal evolution

enthalten in: Annals of hematology | 2023

von Baccelli, F. | Leardini, D. | Cerasi, S. | +3

7

Germline Genetic and Treatment-Related Risk Factors for Diabetes Mellitus in Survivors of Childhood Cancer : A Report From the Childhood Cancer Survivor Study and St Jude Lifetime Cohorts

enthalten in: JCO precision oncology | 2022

von Richard, M. | Mostoufi-Moab, S. | Rathore, N. | +17

8

Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment

enthalten in: British journal of haematology | 2022

von Armes, H. | Bewicke-Copley, F. | Rio-Machin, A. | +13

9

Microdeletion of 9q22.3 : A patient with minimal deletion size associated with a severe phenotype

enthalten in: American journal of medical genetics. Part A | 2021

von Ewing, A. | Cheetham, S. | McGill, J. | +5

10

Nonhomologous end joining : new accessory factors fine tune the machinery

enthalten in: Trends in genetics : TIG | 2021

von Ghosh, D. | Raghavan, S.