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List of works by Dorothée Michaux

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

scientific article published on 14 February 2007

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

scientific article published on 08 February 2011

Evaluation of in silico splice tools for decision-making in molecular diagnosis

scientific article published in July 2008

Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay

scientific article published on 22 August 2012

Germline mutation in the RAD51B gene confers predisposition to breast cancer

scientific article

Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

scientific article

Mosaicism in clinical practice exemplified by prenatal diagnosis in retinoblastoma

scientific article published on 08 September 2011

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