1. "Lowe syndrome: A particularly severe phenotype without clinical kidney involvement". Issue 2 (11th December 2017) Authors: Abdalla, Ebtesam; El‐Beheiry, Ahmed; Dieterich, Klaus; Thevenon, Julien; Fauré, Julien; Rendu, John Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot. Issue 8 (8th April 2014) Authors: Rendu, John; Satre, Véronique; Testard, Hervé; Devillard, Francoise; Vieville, Gaëlle; Fauré, Julien; Amblard, Florence; Jouk, Pierre‐Simon; Coutton, Charles Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 2133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ALK fusion variants detection by targeted RNA-next generation sequencing and clinical responses to crizotinib in ALK-positive non-small cell lung cancer. (February 2018) Authors: McLeer-Florin, Anne; Duruisseaux, Michael; Pinsolle, Julian; Dubourd, Sylvian; Mondet, Julie; Phillips Houlbracq, Mathilde; Magnat, Nelly; Fauré, Julien; Chatagnon, Amandine; de Fraipont, Florence; Giaj Levra, Matteo; Toffart, Anne-Claire; Ferretti, Gilbert; Hainaut, Pierre; Brambilla, Elisabeth;... Journal: Lung cancer Issue: Volume 116(2018) Page Start: 15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy. Issue 9 (29th September 2020) Authors: Géraud, Justine; Dieterich, Klaus; Rendu, John; Uro Coste, Emmanuelle; Dobrzynski, Murielle; Marcorelle, Pascale; Ioos, Christine; Romero, Norma Beatriz; Baudou, Eloise; Brocard, Julie; Coville, Anne-Cécile; Fauré, Julien; Koenig, Michel; Juntas Morales, Raul; Lacène, Emmanuelle; Madelaine, Angél... Journal: Journal of medical genetics Issue: Volume 58:Issue 9(2021) Page Start: 602 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations. Issue 1 (7th December 2021) Authors: Le Tanno, Pauline; Latypova, Xenia; Rendu, John; Fauré, Julien; Bourg, Véronique; Gauthier, Marjolaine; Billy-Lopez, Gipsy; Jouk, Pierre-Simon; Dieterich, Klaus Journal: Journal of medical genetics Issue: Volume 60:Issue 1(2023) Page Start: 13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Familial deep cavitating state with a glutathione metabolism defect. Issue 12 (9th November 2019) Authors: Rendu, John; Van Noolen, Laetitia; Garrel, Catherine; Brocard, Julie; Marty, Isabelle; Corne, Christelle; Fauré, Julien; Besson, Gérard Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 12(2019) Page Start: 2573 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome. Issue 2 (21st November 2016) Authors: Rendu, John; Montjean, Rodrick; Coutton, Charles; Suri, Mohnish; Chicanne, Gaetan; Petiot, Anne; Brocard, Julie; Grunwald, Didier; Pietri Rouxel, France; Payrastre, Bernard; Lunardi, Joel; Dorseuil, Olivier; Marty, Isabelle; Fauré, Julien Journal: Human mutation Issue: Volume 38:Issue 2(2017) Page Start: 152 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Gene therapies for RyR1-related myopathies. (February 2023) Authors: Marty, Isabelle; Beaufils, Mathilde; Fauré, Julien; Rendu, John Journal: Current opinion in pharmacology Issue: Volume 68(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and recurrent intrauterine fetal death. Issue 9982 (23rd May 2015) Authors: Vasiljevic, Alexandre; Poreau, Brice; Bouvier, Raymonde; Lachaux, Alain; Arnoult, Christophe; Fauré, Julien; Cordier, Marie Pierre; Ray, Pierre F Journal: Lancet Issue: Volume 385:Issue 9982(2015) Page Start: 2120 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes. (December 2020) Authors: Bauché, Stéphanie; Sureau, Alain; Sternberg, Damien; Rendu, John; Buon, Céline; Messéant, Julien; Boëx, Myriam; Furling, Denis; Fauré, Julien; Latypova, Xénia; Gelot, Antoinette Bernabe; Mayer, Michèle; Mary, Pierre; Whalen, Sandra; Fournier, Emmanuel; Cloix, Isabelle; Remerand, Ganaelle; Laffarg... Journal: Neurology Issue: Volume 6:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗