1. A de novo 10p11.23‐p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders. Issue 7 (27th April 2016) Authors: Abdelhedi, Fatma; El Khattabi, Laila; Essid, Nouha; Viot, Geraldine; Letessier, Dominique; Lebbar, Aziza; Dupont, Jean‐Michel Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1912 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome. Issue 1 (25th July 2017) Authors: Gras, Domitille; Cousin, Christelle; Kappeler, Caroline; Fung, Cheuk‐Wing; Auvin, Stéphane; Essid, Nouha; Chung, Brian Hy; Da Costa, Lydie; Hainque, Elodie; Luton, Marie‐Pierre; Petit, Vincent; Vuillaumier‐Barrot, Sandrine; Boespflug‐Tanguy, Odile; Roze, Emmanuel; Mochel, Fanny Journal: Annals of neurology Issue: Volume 82:Issue 1(2017) Page Start: 133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome. Issue 1 (July 2017) Authors: Gras, Domitille; Cousin, Christelle; Kappeler, Caroline; Fung, Cheuk‐Wing; Auvin, Stéphane; Essid, Nouha; Chung, Brian Hy; Da Costa, Lydie; Hainque, Elodie; Luton, Marie‐Pierre; Petit, Vincent; Vuillaumier‐Barrot, Sandrine; Boespflug‐Tanguy, Odile; Roze, Emmanuel; Mochel, Fanny Journal: Annals of neurology Issue: Volume 82:Issue 1(2017) Page Start: 133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗