1. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder. Issue 1 (16th October 2013) Authors: Thevenon, Julien; Callier, Patrick; Poquet, Hélène; Bache, Iben; Menten, Bjorn; Malan, Valérie; Cavaliere, Maria Luigia; Girod, Jean-Paul; Thauvin-Robinet, Christel; El Chehadeh, Salima; Pinoit, Jean-Michel; Huet, Frederic; Verges, Bruno; Petit, Jean-Michel; Mosca-Boidron, Anne-Laure; Marle, Nath... Journal: Journal of medical genetics Issue: Volume 51:Issue 1(2014) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. Issue 2 (20th January 2013) Authors: Baujat, Geneviève; Huber, Céline; El Hokayem, Joyce; Caumes, Roseline; Do Ngoc Thanh, Claire; David, Albert; Delezoide, Anne-Lise; Dieux-Coeslier, Anne; Estournet, Brigitte; Francannet, Christine; Kayirangwa, Honorine; Lacaille, Florence; Le Bourgeois, Muriel; Martinovic, Jelena; Salomon, Rémi; S... Journal: Journal of medical genetics Issue: Volume 50:Issue 2(2013) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders. Issue 9 (September 2014) Authors: Jéru, Isabelle; Cochet, Emmanuelle; Duquesnoy, Philippe; Hentgen, Véronique; Copin, Bruno; Mitjavila‐Garcia, Maria Teresa; Sheykholeslami, Shayan; Le Borgne, Gaëlle; Dastot‐Le Moal, Florence; Malan, Valérie; Karabina, Sonia; Mahevas, Mathieu; Chantot‐Bastaraud, Sandra; Lecron, Jean‐Claude; Faivre... Journal: Arthritis & rheumatology Issue: Volume 66:Issue 9(2014) Page Start: 2621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder. Issue 1 (December 2015) Authors: Philippe, Anne; Craus, Yann; Rio, Marlène; Bahi-Buisson, Nadia; Boddaert, Nathalie; Malan, Valérie; Bonnefont, Jean-Paul; Robel, Laurence Journal: BMC psychiatry Issue: Volume 15:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France. (29th April 2019) Authors: Hureaux, Marguerite; Guterman, Sarah; Hervé, Bérénice; Till, Marianne; Jaillard, Sylvie; Redon, Sylvie; Valduga, Myléne; Coutton, Charles; Missirian, Chantal; Prieur, Fabienne; Simon‐Bouy, Brigitte; Beneteau, Claire; Kuentz, Paul; Rooryck, Caroline; Gruchy, Nicolas; Marle, Nathalie; Plutino, Morg... Journal: Prenatal diagnosis Issue: Volume 39:Number 6(2019) Page Start: 464 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review. (2nd April 2015) Authors: El Khattabi, Laïla; Jaillard, Sylvie; Andrieux, Joris; Pasquier, Laurent; Perrin, Laurence; Capri, Yline; Benmansour, Abdelmadjid; Toutain, Annick; Marcorelles, Pascale; Vincent‐Delorme, Catherine; Journel, Hubert; Henry, Catherine; De Barace, Claire; Devisme, Louise; Dubourg, Christèle; Demurger... Journal: American journal of medical genetics Issue: Volume 167:Number 6(2015:Jun.) Page Start: 1252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation. Issue 1 (14th December 2015) Authors: Alby, Caroline; Malan, Valérie; Boutaud, Lucile; Marangoni, Maria Angela; Bessières, Bettina; Bonniere, Maryse; Ichkou, Amale; Elkhartoufi, Nadia; Bahi‐Buisson, Nadia; Sonigo, Pascale; Millischer, Anne‐Elodie; Thomas, Sophie; Ville, Yves; Vekemans, Michel; Encha‐Razavi, Férechté; Attié‐Bitach, Tania Journal: Birth defects research Issue: Volume 106:Issue 1(2016) Page Start: 36 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients. Issue Volume 49:Issue W1(2021) (21st May 2021) Authors: Requena, Francisco; Abdallah, Hamza Hadj; García, Alejandro; Nitschké, Patrick; Romana, Sergi; Malan, Valérie; Rausell, Antonio Journal: Nucleic acids research Issue: Volume 49:Issue W1(2021) Page Start: W93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. 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) ↗