1. Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation. Issue 24 (3rd July 2018) Authors: Bruneel, Arnaud; Cholet, Sophie; Drouin‐Garraud, Valérie; Jacquemont, Marie‐Line; Cano, Aline; Mégarbané, André; Ruel, Coralie; Cheillan, David; Dupré, Thierry; Vuillaumier‐Barrot, Sandrine; Seta, Nathalie; Fenaille, François Other Names: Mechref Y. guestEditor. Journal: Electrophoresis Issue: Volume 39:Issue 24(2018) Page Start: 3123 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients. Issue 4 (5th March 2014) Authors: Lehalle, Daphné; Gordon, Christopher T.; Oufadem, Myriam; Goudefroye, Géraldine; Boutaud, Lucile; Alessandri, Jean‐Luc; Baena, Neus; Baujat, Geneviève; Baumann, Clarisse; Boute‐Benejean, Odile; Caumes, Roseline; Decaestecker, Charles; Gaillard, Dominique; Goldenberg, Alice; Gonzales, Marie; Holde... Journal: Human mutation Issue: Volume 35:Issue 4(2014:Apr.) Page Start: 478 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Growth charts in Kabuki syndrome 1. Issue 3 (26th December 2019) Authors: Ruault, Valentin; Corsini, Carole; Duflos, Claire; Akouete, Sandrine; Georgescu, Véra; Abaji, Mario; Alembick, Yves; Alix, Eudeline; Amiel, Jeanne; Amouroux, Cyril; Barat‐Houari, Mouna; Baumann, Clarisse; Bonnard, Adeline; Boursier, Guilaine; Boute, Odile; Burglen, Lydie; Busa, Tiffany; Cordier, ... Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 446 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5. Issue 1 (4th November 2018) Authors: Lerat, Justine; Bonnet, Crystel; Cartault, François; Loundon, Natalie; Jacquemont, Marie‐Line; Darcel, Françoise; Rouillon, Isabelle; Mezouaghi, Kheira; Guichet, Agnes; Litzler, Julie; Gesny, Roselyne; Gherbi, Souad; Aissa, Ines Ben; Digeon, Fabienne Saint James; Garabedian, Eréa‐Nöel; Bonnefont,... Journal: Clinical genetics Issue: Volume 95:Issue 1(2019) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard–Soulier syndrome in French patients from the genetic isolate of Reunion Island. (30th January 2020) Authors: Fiore, Mathieu; De Thoré, Céline; Randrianaivo‐Ranjatoelina, Hanitra; Baas, Marie‐Jeanne; Jacquemont, Marie‐Line; Dreyfus, Marie; Lavenu‐Bombled, Cécile; Li, Renhao; Gachet, Christian; Dupuis, Arnaud; Lanza, Francois Journal: British journal of haematology Issue: Volume 189:Number 3(2020) Page Start: e67 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Issue 12 (8th November 2013) Authors: Tatton‐Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M.; Clericuzio, Carol L.; Cormier‐Daire, Valerie; Cushing, Tom; Flinter, Frances; Jacquemont, Marie‐Line; Joss, Shelagh; Kinning, Esther; Lynch, Sally Ann; Magee, Alex; McConnell, Vi... Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 2972 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Issue 12 (8th November 2013) Authors: Tatton‐Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M.; Clericuzio, Carol L.; Cormier‐Daire, Valerie; Cushing, Tom; Flinter, Frances; Jacquemont, Marie‐Line; Joss, Shelagh; Kinning, Esther; Lynch, Sally Ann; Magee, Alex; McConnell, Vi... Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 2972 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X‐linked intellectual disability with distinctive facial appearance. Issue 6 (1st May 2013) Authors: Philippe, Anne; Malan, Valérie; Jacquemont, Marie‐Line; Boddaert, Nathalie; Bonnefont, Jean‐Paul; Odent, Sylvie; Munnich, Arnold; Colleaux, Laurence; Cormier‐Daire, Valérie Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1370 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗