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Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel-Lindau gene in the ccRCC
Franck Chesnel
,
Emmanuelle Jullion
,
Olivier Delalande
,
Anne Couturier
,
Adrien Alusse
et al.
Journal articles
hal-03800523v1
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Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes
Sandie Le Guédard-Méreuze
,
Christel Vache
,
David Baux
,
Valérie Faugère
,
Lise Larrieu
et al.
Journal articles
istex
hal-02444172v1
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Non-USH2A mutations in USH2 patients.
Thomas Besnard
,
Christel Vaché
,
David Baux
,
Lise Larrieu
,
Caroline Abadie
et al.
Journal articles
istex
inserm-00650795v1
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Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.
Alice Fievet
,
Marc-Antoine Belaud-Rotureau
,
Frédéric Dugay
,
Caroline Abadie
,
Catherine Henry
et al.
Journal articles
hal-00933759v1
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Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy
Christel Vache
,
Thomas Besnard
,
Pauline Le Berre
,
Gema García-García
,
David Baux
et al.
Journal articles
istex
hal-02443312v1
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Neuroblastoma and tooth abnormalities: a common history?
Caroline Abadie
,
Bénédicte Lechaix
,
Virginie Gandemer
,
Martine Bonnaure-Mallet
Journal articles
inserm-00825411v1
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