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- 2020
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Mark
Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families
(
- Contribution to journal › Article
- 2017
-
Mark
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS and neurological symptoms
(
- Contribution to journal › Article
- 2016
-
Mark
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
(
- Contribution to journal › Article