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Author/Creator Vaché, Christel

1. Enrichment of LOVD‐USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots. Issue 10 (15th July 2014)

Authors:
Baux, David; Blanchet, Catherine; Hamel, Christian; Meunier, Isabelle; Larrieu, Lise; Faugère, Valérie; Vaché, Christel; Castorina, Pierangela; Puech, Bernard; Bonneau, Dominique; Malcolm, Sue; Claustres, Mireille; Roux, Anne‐Françoise
Journal:
Human mutation
Issue:
Volume 35:Issue 10(2014:Oct.)
Page Start:
1179
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Experience of targeted Usher exome sequencing as a clinical test. Issue 1 (10th July 2013)

Authors:
Besnard, Thomas; García‐García, Gema; Baux, David; Vaché, Christel; Faugère, Valérie; Larrieu, Lise; Léonard, Susana; Millan, Jose M.; Malcolm, Sue; Claustres, Mireille; Roux, Anne‐Françoise
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 2:Issue 1(2014:Jan.)
Page Start:
30
Record Type:
Journal Article
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3. Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses. Issue 1 (8th November 2018)

Authors:
Vaché, Christel; Torriano, Simona; Faugère, Valérie; Erkilic, Nejla; Baux, David; Garcia‐Garcia, Gema; Hamel, Christian P.; Meunier, Isabelle; Zanlonghi, Xavier; Koenig, Michel; Kalatzis, Vasiliki; Roux, Anne‐Françoise
Journal:
Human mutation
Issue:
Volume 40:Issue 1(2019)
Page Start:
31
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗