1. Quantitative comparison of human myocardial fiber orientations derived from DTI and polarized light imaging. (23rd October 2018) Authors: Yang, Feng; Zhu, Yue-Min; Michalowicz, Gabrielle; Jouk, Pierre-Simon; Fanton, Laurent; Viallon, Magalie; Clarysse, Patrick; Croisille, Pierre; Usson, Yves Journal: Physics in medicine & biology Issue: Volume 63:Number 21(2018:Nov.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Issue 7 (7th March 2017) Authors: Le Tanno, Pauline; Breton, Julie; Bidart, Marie; Satre, Véronique; Harbuz, Radu; Ray, Pierre F; Bosson, Caroline; Dieterich, Klaus; Jaillard, Sylvie; Odent, Sylvie; Poke, Gemma; Beddow, Rachel; Digilio, Maria Christina; Novelli, Antonio; Bernardini, Laura; Pisanti, Maria Antonietta; Mackenroth, L... Journal: Journal of medical genetics Issue: Volume 54:Issue 7(2017) Page Start: 502 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. Issue 6 (5th April 2021) Authors: Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Lauren... Journal: Journal of medical genetics Issue: Volume 59:Issue 6(2022) Page Start: 559 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Issue 7 (10th April 2020) Authors: Chevarin, Martin; Duffourd, Yannis; A. Barnard, Rebecca; Moutton, Sébastien; Lecoquierre, François; Daoud, Fatma; Kuentz, Paul; Cabret, Caroline; Thevenon, Julien; Gautier, Elodie; Callier, Patrick; St-Onge, Judith; Jouan, Thibaud; Lacombe, Didier; Delrue, Marie Ange; Goizet, Cyril; Morice-Picard... Journal: Journal of medical genetics Issue: Volume 57:Issue 7(2020) Page Start: 466 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype. (1st May 2018) Authors: Dai, Shenhao; Dieterich, Klaus; Jaeger, Marie; Wuyam, Bernard; Jouk, Pierre-Simon; Pérennou, Dominic Journal: Neurology Issue: Volume 90:Number 18(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression. (24th March 2017) Authors: Donnio, Lise-Marie; Bidon, Baptiste; Hashimoto, Satoru; May, Melanie; Epanchintsev, Alexey; Ryan, Colm; Allen, William; Hackett, Anna; Gecz, Jozef; Skinner, Cindy; Stevenson, Roger E.; de Brouwer, Arjan P.M.; Coutton, Charles; Francannet, Christine; Jouk, Pierre-Simon; Schwartz, Charles E.; Egly,... Journal: Human molecular genetics Issue: Volume 26:Number 11(2017:Jun. 01) Page Start: 2062 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Author response: Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype. (26th March 2019) Authors: Dai, Shenhao; Dieterich, Klaus; Jaeger, Marie; Wuyam, Bernard; Jouk, Pierre-Simon; Pérennou, Dominic Journal: Neurology Issue: Volume 92:Number 13(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗