1. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Issue 10 (10th October 2012) Authors: Zufferey, Flore; Sherr, Elliott H; Beckmann, Noam D; Hanson, Ellen; Maillard, Anne M; Hippolyte, Loyse; Macé, Aurélien; Ferrari, Carina; Kutalik, Zoltán; Andrieux, Joris; Aylward, Elizabeth; Barker, Mandy; Bernier, Raphael; Bouquillon, Sonia; Conus, Philippe; Delobel, Bruno; Faucett, W Andrew; Go... Other Names: Addor Marie Claude author non-byline.; Arveiler Benoit author non-byline.; Belfiore Marco author non-byline.; Bena Frédérique author non-byline.; Bernardini Laura author non-byline.; Blanchet Patricia author non-byline.; Bonneau Dominique author non-byline.; Boute Odile author non-byline.; Callie... Journal: Journal of medical genetics Issue: Volume 49:Issue 10(2012) Page Start: 660 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Acro‐osteolysis, keloid like‐lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type. Issue 7 (29th May 2013) Authors: Zufferey, Flore; Hadj‐Rabia, Smaïl; De Sandre‐Giovannoli, Annachiara; Dufier, Jean‐Louis; Leheup, Bruno; Schweitze, Cyril; Bodemer, Christine; Cormier‐Daire, Valérie; Le Merrer, Martine Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1786 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗