1. A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett‐like phenotype. Issue 2 (7th February 2018) Authors: Vuillaume, Marie‐Laure; Jeanne, Médéric; Xue, Li; Blesson, Sophie; Denommé‐Pichon, Anne‐Sophie; Alirol, Servane; Brulard, Céline; Colin, Estelle; Isidor, Bertrand; Gilbert‐Dussardier, Brigitte; Odent, Sylvie; Parent, Philippe; Donnart, Audrey; Redon, Richard; Bézieau, Stéphane; Rondard, Philippe;... Journal: Annals of neurology Issue: Volume 83:Issue 2(2018) Page Start: 437 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Are IVC Filters Required in Combat Support Hospitals?. Issue 3 (1st September 2009) Authors: Parent, Philippe; Trottier, VJF; Bennett, DR; Charlebois, PB; Schieff, TD Journal: Journal of the Royal Army Medical Corps Issue: Volume 155:Issue 3(2009) Page Start: 210 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Issue 11 (8th September 2016) Authors: Goldenberg, Alice; Riccardi, Florence; Tessier, Aude; Pfundt, Rolph; Busa, Tiffany; Cacciagli, Pierre; Capri, Yline; Coutton, Charles; Delahaye‐Duriez, Andree; Frebourg, Thierry; Gatinois, Vincent; Guerrot, Anne‐Marie; Genevieve, David; Lecoquierre, Francois; Jacquette, Aurélia; Khau Van Kien, Ph... Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2847 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Issue 4 (4th February 2016) Authors: Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A.; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J; Roger Lebel, Robert; Henderson, Alex; Schaaf, Christian P.; Streff, Haley E.; Yang, Yaping; Jain, Vani; Chida, Nodoka; Latypova, Xenia; Caignec, Cédric Le; Cogné, Benjamin; ... Journal: Human mutation Issue: Volume 37:Issue 4(2016) Page Start: 354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Engineering a three-dimensional, photoelectrochemically active p-NiO / i-Sb2S3 junction by atomic layer deposition. (10th October 2015) Authors: Barr, Maïssa K.S.; Assaud, Loïc; Wu, Yanlin; Laffon, Carine; Parent, Philippe; Bachmann, Julien; Santinacci, Lionel Journal: Electrochimica acta Issue: Volume 179(2015) Page Start: 504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Engineering a three-dimensional, photoelectrochemically active p-NiO / i-Sb2S3 junction by atomic layer deposition. (10th October 2015) Authors: Barr, Maïssa K.S.; Assaud, Loïc; Wu, Yanlin; Laffon, Carine; Parent, Philippe; Bachmann, Julien; Santinacci, Lionel Journal: Electrochimica acta Issue: Volume 179(2015) Page Start: 504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Engineering a three-dimensional, photoelectrochemically active p-NiO / i-Sb2S3 junction by atomic layer deposition. (10th October 2015) Authors: Barr, Maïssa K.S.; Assaud, Loïc; Wu, Yanlin; Laffon, Carine; Parent, Philippe; Bachmann, Julien; Santinacci, Lionel Journal: Electrochimica acta Issue: Volume 179(2015) Page Start: 504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Issue 11 (12th September 2017) Authors: Amyere, Mustapha; Revencu, Nicole; Helaers, Raphaël; Pairet, Eleonore; Baselga, Eulalia; Cordisco, Maria; Chung, Wendy; Dubois, Josée; Lacour, Jean-Philippe; Martorell, Loreto; Mazereeuw-Hautier, Juliette; Pyeritz, Reed E.; Amor, David J.; Bisdorff, Annouk; Blei, Francine; Bombei, Hannah; Dompmar... Journal: Circulation Issue: Volume 136:Issue 11(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy. Issue 5 (3rd April 2017) Authors: Redon, Sylvia; Benech, Caroline; Schutz, Sacha; Despres, Aurore; Gueguen, Paul; Le Berre, Pauline; Le Marechal, Cédric; Peudenier, Sylviane; Meriot, Philippe; Parent, Philippe; Ferec, Claude Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1444 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Issue 4 (27th November 2017) Authors: Legendre, Marine; Abadie, Véronique; Attié‐Bitach, Tania; Philip, Nicole; Busa, Tiffany; Bonneau, Dominique; Colin, Estelle; Dollfus, Hélène; Lacombe, Didier; Toutain, Annick; Blesson, Sophie; Julia, Sophie; Martin‐Coignard, Dominique; Geneviève, David; Leheup, Bruno; Odent, Sylvie; Jouk, Pierre‐... Other Names: van Ravenswaaij‐Arts Conny guestEditor.; Martin Donna M. guestEditor. Journal: American journal of medical genetics Issue: Volume 175:Issue 4(2017) Page Start: 417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗