1. ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia. Issue 1 (31st August 2017) Authors: Nizon, M.; Küry, S.; Péréon, Y.; Besnard, T.; Quinquis, D.; Boisseau, P.; Marsaud, T.; Magot, A.; Mussini, J.‐M.; Mayrargue, E.; Barbarot, S.; Bézieau, S.; Isidor, B. Journal: Clinical genetics Issue: Volume 93:Issue 1(2018) Page Start: 169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Issue 4 (13th February 2018) Authors: Chiu, A.T.G.; Pei, S.L.C.; Mak, C.C.Y.; Leung, G.K.C.; Yu, M.H.C.; Lee, S.L.; Vreeburg, M.; Pfundt, R.; van der Burgt, I.; Kleefstra, T.; Frederic, T.M.‐T.; Nambot, S.; Faivre, L.; Bruel, A.‐L.; Rossi, M.; Isidor, B.; Küry, S.; Cogne, B.; Besnard, T.; Willems, M. Journal: Clinical genetics Issue: Volume 93:Issue 4(2018) Page Start: 880 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗