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Zufferey, F; Sherr, E H; Beckmann, N D; Hanson, E; Maillard, A M; Hippolyte, L; Mace, A; Ferrari, C; Kutalik, Z; Andrieux, J; Aylward, E; Barker, M; Bernier, R; Bouquillon, S; Conus, P; Delobel, B; Faucett, W A; Goin-Kochel, R P; Grant, E; Harewood, L; ... (2012). A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Journal of medical genetics, 49(10), pp. 660-8. London: BMJ Publishing Group 10.1136/jmedgenet-2012-101203
Ferrarini, A; Osterheld, MC; Vial, Y; de Viragh, PA; Cotting, J; Martinet, D; Beckmann, JS; Fellmann, F (2010). Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome? American journal of medical genetics. Part B - Neuropsychiatric genetics, 149A(12), pp. 2661-2665. Hoboken, N.J.: Wiley-Liss 10.1002/ajmg.a.33132