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List of works by Michèle Mathieu-Dramard

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

scientific article published on 09 November 2020

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

scientific article

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

scientific article published on 2 February 2017

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