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List of works by Marine Legendre

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

scientific article

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

scientific article published on 9 July 2015

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

scientific article published on 27 November 2017

TCTN3 mutations cause Mohr-Majewski syndrome

scientific article

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