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List of works by Winfried Hofmann

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity

article

De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia

scientific article published on 06 July 2020

From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing

scientific article published on 13 November 2019

MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies.

scientific article published on 2 November 2017

Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.

scientific article published on 2 March 2018

Routes of Clonal Evolution into Complex Karyotypes in Myelodysplastic Syndrome Patients with 5q Deletion

scientific article published on 21 October 2018

The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants

scientific article published on 11 January 2019

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