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List of works by Maria Roser Pujol

Engraftment and in vivo proliferation advantage of gene corrected mobilized CD34(+) cells from Fanconi anemia patients.

scientific article published on 11 August 2017

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

scientific article published on 24 August 2017

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 26 July 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 6 September 2018

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

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