1. Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB. (12th October 2020) Authors: Mollin, M.; Beaumel, S.; Vigne, B.; Brault, J.; Roux‐Buisson, N.; Rendu, J.; Barlogis, V.; Catho, G.; Dumeril, C.; Fouyssac, F.; Monnier, D.; Gandemer, V.; Revest, M.; Brion, J.‐P.; Bost‐Bru, C.; Jeziorski, E.; Eitenschenck, L.; Jarrasse, C.; Drillon Haus, S.; Houachée‐Chardin, M. Journal: Clinical and experimental immunology Issue: Volume 203:Number 2(2021) Page Start: 247 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Treatment with Hizentra in patients with primary and secondary immunodeficiencies: a real-life, non-interventional trial. (December 2016) Authors: Viallard, J.; Agape, P.; Barlogis, V.; Cozon, G.; Faure, C.; Fouyssac, F.; Gaud, C.; Gourin, M.; Hamidou, M.; Hoarau, C.; Husseini, F.; Ojeda-Uribe, M.; Pavic, M.; Pellier, I.; Perlat, A.; Schleinitz, N.; Slama, B. Journal: BMC immunology Issue: Volume 17:Number 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes. (26th March 2014) Authors: Piard, J.; Aral, B.; Vabres, P.; Holder‐Espinasse, M.; Mégarbané, A.; Gauthier, S.; Capra, V.; Pierquin, G.; Callier, P.; Baumann, C.; Pasquier, L.; Baujat, G.; Martorell, L.; Rodriguez, A.; Brady, A. F.; Boralevi, F.; González‐Enseñat, M. A.; Rio, M.; Bodemer, C.; Philip, N. Journal: Clinical genetics Issue: Volume 87:Number 3(2015:Mar.) Page Start: 244 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗