Search

Author/Creator Chretien, Dominique

2. 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) ↗

3. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. Issue 12 (28th October 2014)

Authors:
Metodiev, Metodi Dimitrov; Gerber, Sylvie; Hubert, Laurence; Delahodde, Agnès; Chretien, Dominique; Gérard, Xavier; Amati-Bonneau, Patrizia; Giacomotto, Marie-Christine; Boddaert, Nathalie; Kaminska, Anna; Desguerre, Isabelle; Amiel, Jeanne; Rio, Marlène; Kaplan, Josseline; Munnich, Arnold; Rötig...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 12(2014)
Page Start:
834
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗