1. Clinical and genetic characteristics of late-onset Huntington's disease. (April 2019) Authors: Bachoud-Lévi, Anne-Catherine; Bentivoglio, Anna-Rita; Biunno, Ida; Bonelli, Raphael M.; Bronzova, Juliana; Burgunder, Jean-Marc; Dunnett, Stephen B.; Ferreira, Joaquim J.; Frich, Jan; Giuliano, Joe; Handley, Olivia J.; Heiberg, Arvid; Illarioshkin, Sergey; Illmann, Torsten; Klempir, Jiri; Landweh... Journal: Parkinsonism & related disorders Issue: Volume 61(2019) Page Start: 101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Confirmation that RIPK4 mutations cause not only Bartsocas‐Papas syndrome but also CHAND syndrome. Issue 11 (21st September 2017) Authors: Busa, Tiffany; Jeraiby, Mohammed; Clémenson, Alix; Manouvrier, Sylvie; Granados, Viviana; Philip, Nicole; Touraine, Renaud Journal: American journal of medical genetics Issue: Volume 173:Issue 11(2017) Page Start: 3114 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Confirmation that RIPK4 mutations cause not only Bartsocas‐Papas syndrome but also CHAND syndrome. Issue 11 (21st September 2017) Authors: Busa, Tiffany; Jeraiby, Mohammed; Clémenson, Alix; Manouvrier, Sylvie; Granados, Viviana; Philip, Nicole; Touraine, Renaud Journal: American journal of medical genetics Issue: Volume 173:Issue 11(2017) Page Start: 3114 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt‐oram and ulnar‐mammary syndromes. Issue 7 (24th May 2013) Authors: Alby, Caroline; Bessieres, Bettina; Bieth, Eric; Attie‐Bitach, Tania; Fermont, Laurent; Citony, Isabelle; Razavi, Ferechté; Vekemans, Michel; Escande, Fabienne; Manouvrier, Sylvie; Malan, Valérie; Amiel, Jeanne Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Mandibular‐pelvic‐patellar syndrome is a novel PITX1‐related disorder due to alteration of PITX1 transactivation ability. Issue 9 (15th July 2020) Authors: Morel, Godelieve; Duhamel, Céline; Boussion, Simon; Frénois, Frédéric; Lesca, Gaetan; Chatron, Nicolas; Labalme, Audrey; Sanlaville, Damien; Edery, Patrick; Thevenon, Julien; Faivre, Laurence; Fassier, Alice; Prodhomme, Olivier; Escande, Fabienne; Manouvrier, Sylvie; Petit, Florence; Geneviève, D... Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1499 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France. Issue 2 (3rd September 2019) Authors: Vermaut, Catherine; Leclerc, Julie; Vasseur, Francis; Wacrenier, Agnes; Lovecchio, Tonio; Boidin, Denis; Rebergue, Marie‐Helene; Cattan, Stephane; Manouvrier, Sylvie; Lejeune, Sophie; Buisine, Marie‐Pierre Journal: Genes, chromosomes & cancer Issue: Volume 59:Issue 2(2020) Page Start: 111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome1. Issue 3 (7th February 2013) Authors: Ghanim, Mustafa; Rossignol, Sylvie; Delobel, Bruno; Irving, Melita; Miller, Owen; Devisme, Louise; Plennevaux, Jean‐Louis; Lucidarme‐Rossi, Sophie; Manouvrier, Sylvie; Salah, Azzi; Chivu, Olimpia; Netchine, Irène; Vincent‐Delorme, Catherine Journal: American journal of medical genetics Issue: Volume 161:Issue 3(2013:Mar.) Page Start: 572 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion. Issue 6 (11th April 2017) Authors: Huynh, Minh Tuan; Boudry‐Labis, Elise; Duban, Bénédicte; Andrieux, Joris; Tran, Cong Toai; Tampere, Heidi; Ceraso, Delphine; Manouvrier, Sylvie; Tachdjian, Gérard; Roche‐Lestienne, Catherine; Vincent‐Delorme, Catherine Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1690 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗