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List of works by Emanuela Maserati

Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene.

scientific article published on 11 January 2018

Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability

scientific article published on 26 December 2018

Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations

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