1. Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement. Issue 2 (14th May 2018) Authors: Dabaj, Ivana; Carlier, Robert Y; Gómez‐Andrés, David; Neto, Osório Abath; Bertini, Enrico; D'amico, Adele; Fattori, Fabiana; PéRéon, Yann; Castiglioni, Claudia; Rodillo, Eliana; Catteruccia, Michela; Guimarães, júlio Brandão; Oliveira, Acary Souza Bulle; Reed, Umbertina Conti; Mesrob, Lilia; Lech... Journal: Muscle & nerve Issue: Volume 58:Issue 2(2018) Page Start: 224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. (17th October 2016) Authors: Abath Neto, Osorio; Heise, Carlos Otto; Moreno, Cristiane de Araújo Martins; Estephan, Eduardo de Paula; Mesrob, Lilia; Lechner, Doris; Boland, Anne; Deleuze, Jean-François; Oliveira, Acary Souza Bulle; Reed, Umbertina Conti; Biancalana, Valérie; Laporte, Jocelyn; Zanoteli, Edmar Journal: Canadian journal of neurological sciences Issue: Volume 44:Number 1(2017) Page Start: 125 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes. Issue 3 (March 2021) Authors: Lytrivi, Maria; Senée, Valérie; Salpea, Paraskevi; Fantuzzi, Federica; Philippi, Anne; Abdulkarim, Baroj; Sawatani, Toshiaki; Marín-Cañas, Sandra; Pachera, Nathalie; Degavre, Anne; Singh, Pratibha; Derbois, Céline; Lechner, Doris; Ladrière, Laurence; Igoillo-Esteve, Mariana; Cosentino, Cristina; ... Journal: European journal of endocrinology Issue: Volume 184:Issue 3(2021) Page Start: 455 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗