Search

Author/Creator Polge, Anne

1. Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case. Issue 5 (3rd July 2022)

Authors:
De La Cruz, Elisa; Guissart, Claire; Esselin, Florence; Polge, Anne; Pageot, Nicolas; Taieb, Guillaume; Lumbroso, Serge; Camu, William; Mouzat, Kevin
Journal:
Amyotrophic lateral sclerosis and frontotemporal degeneration
Issue:
Volume 23:Issue 5/6(2022)
Page Start:
458
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Issue 11 (28th August 2014)

Authors:
Redin, Claire; Gérard, Bénédicte; Lauer, Julia; Herenger, Yvan; Muller, Jean; Quartier, Angélique; Masurel-Paulet, Alice; Willems, Marjolaine; Lesca, Gaétan; El-Chehadeh, Salima; Le Gras, Stéphanie; Vicaire, Serge; Philipps, Muriel; Dumas, Michaël; Geoffroy, Véronique; Feger, Claire; Haumesser, N...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 11(2014)
Page Start:
724
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗