1. A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome. Issue 5 (3rd February 2016) Authors: Nizon, M.; Henry, M.; Michot, C.; Baumann, C.; Bazin, A.; Bessières, B.; Blesson, S.; Cordier‐Alex, M.‐P.; David, A.; Delahaye‐Duriez, A.; Delezoïde, A.‐L.; Dieux‐Coeslier, A.; Doco‐Fenzy, M.; Faivre, L.; Goldenberg, A.; Layet, V.; Loget, P.; Marlin, S.; Martinovic, J.; Odent, S. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: 584 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations. (20th December 2013) Authors: Riant, F.; Odent, S.; Cecillon, M.; Pasquier, L.; de Baracé, C.; Carney, M.P.; Tournier‐Lasserve, E. Journal: Clinical genetics Issue: Volume 86:Number 6(2014:Dec.) Page Start: 585 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) ↗
4. Split hand/foot malformation with long‐bone deficiency and BHLHA9 duplication: report of 13 new families. (15th July 2013) Authors: Petit, F.; Jourdain, A.‐S.; Andrieux, J.; Baujat, G.; Baumann, C.; Beneteau, C.; David, A.; Faivre, L.; Gaillard, D.; Gilbert‐Dussardier, B.; Jouk, P.‐S.; Le Caignec, C.; Loget, P.; Pasquier, L.; Porchet, N.; Holder‐Espinasse, M.; Manouvrier‐Hanu, S.; Escande, F. Journal: Clinical genetics Issue: Volume 85:Number 5(2014:May) Page Start: 464 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Two-dimensional square and hexagonal oxide quasicrystal approximants in SrTiO3 films grown on Pt(111)/Al2O3(0001). Issue 12 (11th March 2022) Authors: Ruano Merchan, C.; Dorini, T. T.; Brix, F.; Pasquier, L.; Jullien, M.; Pierre, D.; Andrieu, S.; Dumesnil, K.; Parapari, S. S.; Šturm, S.; Ledieu, J.; Sicot, M.; Copie, O.; Gaudry, E.; Fournée, V. Journal: Physical chemistry chemical physics Issue: Volume 24:Issue 12(2022) Page Start: 7253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. Issue 3 (4th October 2017) Authors: Chérot, E.; Keren, B.; Dubourg, C.; Carré, W.; Fradin, M.; Lavillaureix, A.; Afenjar, A.; Burglen, L.; Whalen, S.; Charles, P.; Marey, I.; Heide, S.; Jacquette, A.; Heron, D.; Doummar, D.; Rodriguez, D.; Billette de Villemeur, T.; Moutard, M.‐L.; Guët, A.; Xavier, J. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. Issue 1 (17th May 2018) Authors: Baer, S.; Afenjar, A.; Smol, T.; Piton, A.; Gérard, B.; Alembik, Y.; Bienvenu, T.; Boursier, G.; Boute, O.; Colson, C.; Cordier, M.‐P.; Cormier‐Daire, V.; Delobel, B.; Doco‐Fenzy, M.; Duban‐Bedu, B.; Fradin, M.; Geneviève, D.; Goldenberg, A.; Grelet, M.; Haye, D. Journal: Clinical genetics Issue: Volume 94:Issue 1(2018) Page Start: 141 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗