1. A new mutation in the C‐terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families. Issue 3 (31st January 2018) Authors: Fabre, Alexandre; Petit, Laetitia‐Marie; Hansen, Lars F.; Wewer, Anne V.; Esteve, Clothilde; Chaix, Charlène; Bourgeois, Patrice; Badens, Catherine; Paerregaard, Anders Journal: American journal of medical genetics Issue: Volume 176:Issue 3(2018) Page Start: 727 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel SUPT5H variant associated with a beta‐thalassaemia trait. (1st December 2021) Authors: Charnay, Theo; Cerino, Mathieu; Gonnet, Katia; Bonello‐Palot, Nathalie; Bréchard, Marie‐Pierre; Badens, Catherine Journal: British journal of haematology Issue: Volume 196:Number 6(2022) Page Start: e70 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Advances in understanding the pathogenesis of the red cell volume disorders. (29th June 2016) Authors: Badens, Catherine; Guizouarn, Hélène Journal: British journal of haematology Issue: Volume 174:Number 5(2016) Page Start: 674 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Comparative evaluation of the depletion‐red cell exchange program with the Spectra Optia and the isovolemic hemodilution‐red cell exchange method with the COBE Spectra in sickle cell disease patients. Issue 5 (14th August 2015) Authors: Poullin, Pascale; Sanderson, Frederick; Bernit, Emmanuelle; Brun, Marion; Berdah, Yael; Badens, Catherine Journal: Journal of clinical apheresis Issue: Volume 31:Issue 5(2016) Page Start: 429 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (7th June 2016) Authors: Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schütz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Møller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nürnberg, Peter; Thiele, Holger; Kurlemann, G... Journal: Neurology Issue: Volume 86:Number 23(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. (29th October 2015) Authors: Di Meglio, Chloé; Lesca, Gaetan; Villeneuve, Nathalie; Lacoste, Caroline; Abidi, Affef; Cacciagli, Pierre; Altuzarra, Cécilia; Roubertie, Agathe; Afenjar, Alexandra; Renaldo‐Robin, Florence; Isidor, Bertrand; Gautier, Agnes; Husson, Marie; Cances, Claude; Metreau, Julia; Laroche, Cécile; Chouchan... Journal: Epilepsia Issue: Volume 56:issue 12(2015:Dec.) Page Start: 1931 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Issue 6 (4th April 2018) Authors: Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Remerand, Ganaëlle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, O... Journal: Journal of medical genetics Issue: Volume 55:Issue 6(2018) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review. Issue 6 (June 2021) Authors: Caralli, Morgane; Roman, Celine; Coste, Marie-Edith; Roquelaure, Bertrand; Buffat, Christophe; Bourgeois, Patrice; Badens, Catherine; Fabre, Alexandre Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 72:Issue 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island. (June 2015) Authors: Muszlak, Mathias; Pissard, Serge; Badens, Catherine; Chamouine, Abdourahim; Maillard, Olivier; Thuret, Isabelle Journal: Hemoglobin Issue: Volume 39:Number 3(2015) Page Start: 156 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. High Aspect Ratio Sub‐Micrometer Channels Using Wet Etching: Application to the Dynamics of Red Blood Cell Transiting through Biomimetic Splenic Slits. Issue 32 (26th June 2017) Authors: Gambhire, Priya; Atwell, Scott; Iss, Cécile; Bedu, Frédéric; Ozerov, Igor; Badens, Catherine; Helfer, Emmanuèle; Viallat, Annie; Charrier, Anne Journal: Small Issue: Volume 13:Issue 32(2017) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗