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Author/Creator Larrieu, Lise

2. 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) ↗

3. 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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4. Mini‐Exome Coupled to Read‐Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. Issue 12 (2nd September 2016)

Authors:
Marelli, Cecilia; Guissart, Claire; Hubsch, Cecile; Renaud, Mathilde; Villemin, Jean‐Philippe; Larrieu, Lise; Charles, Perrine; Ayrignac, Xavier; Sacconi, Sabrina; Collignon, Patrick; Cuntz‐Shadfar, Danielle; Perrin, Laurine; Benarrosh, Anelia; Degardin, Adrian; Lagha‐Boukbiza, Ouhaïd; Mutez, Eug...
Journal:
Human mutation
Issue:
Volume 37:Issue 12(2016)
Page Start:
1340
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗