Suchergebnisse - "Pastor, Victor B"

PubPharm (6)

1

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

enthalten in: Blood | 2022

von Sharma, R. | Sahoo, S. | Honda, M. | +30

CommentIn: Blood. 2022 Feb 17;139(7):957-959. - PMID 35175322

2

Publisher Correction : Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

enthalten in: Nature medicine | 2021

von Sahoo, S. | Pastor, V. | Goodings, C. | +94

ErratumFor: Nat Med. 2021 Oct;27(10):1806-1817. - PMID 34621053

3

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

enthalten in: Blood | 2021

von Kozyra, E. | Göhring, G. | Hickstein, D. | +44

4

Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

enthalten in: Nature medicine | 2021

von Sahoo, S. | Pastor, V. | Goodings, C. | +94

ErratumIn: Nat Med. 2021 Dec;27(12):2248. - PMID 34799732

5

Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

enthalten in: Leukemia | 2020

von Kozyra, E. | Pastor, V. | Lefkopoulos, S. | +37

6

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

enthalten in: Haematologica | 2018

von Pastor, V. | Sahoo, S. | Boklan, J. | +21

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