1. Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases. Issue 6 (23rd February 2017) Authors: Ranza, E.; Huber, C.; Levin, N.; Baujat, G.; Bole‐Feysot, C.; Nitschke, P.; Masson, C.; Alanay, Y.; Al‐Gazali, L.; Bitoun, P.; Boute, O.; Campeau, P.; Coubes, C.; McEntagart, M.; Elcioglu, N.; Faivre, L.; Gezdirici, A.; Johnson, D.; Mihci, E.; Nur, B.G. Journal: Clinical genetics Issue: Volume 91:Issue 6(2017) Page Start: 868 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing. Issue 6 (16th February 2016) Authors: Mouden, C.; Dubourg, C.; Carré, W.; Rose, S.; Quelin, C.; Akloul, L.; Hamdi‐Rozé, H.; Viot, G.; Salhi, H.; Darnault, P.; Odent, S.; Dupé, V.; David, V. Journal: Clinical genetics Issue: Volume 89:Issue 6(2016) Page Start: 659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. (7th October 2013) Authors: Chassaing, N.; Causse, A.; Vigouroux, A.; Delahaye, A.; Alessandri, J.‐L.; Boespflug‐Tanguy, O.; Boute‐Benejean, O.; Dollfus, H.; Duban‐Bedu, B.; Gilbert‐Dussardier, B.; Giuliano, F.; Gonzales, M.; Holder‐Espinasse, M.; Isidor, B.; Jacquemont, M.‐L.; Lacombe, D.; Martin‐Coignard, D.; Mathieu‐Dram... Journal: Clinical genetics Issue: Volume 86:Number 4(2014:Oct.) Page Start: 326 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗