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Blood|December 8, 2011
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculatureJan Kazenwadel, Genevieve A Secker, Yajuan J Liu, et al.Blood|December 30, 2015
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignanciesMaya Lewinsohn, Anna L Brown, Luke M Weinel, et al.Nature Genetics|September 6, 2011
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemiaChristopher N Hahn, Chan-Eng Chong, Catherine L Carmichael, et al.Journal of Medical Genetics|April 3, 2021
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and SingaporePei Sze Ng, Rick Acm Boonen, Eldarina Wijaya, et al.Blood Advances|March 26, 2020
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AMLAnna L Brown, Peer Arts, Catherine L Carmichael, et al.Pageof 2