1. CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. Issue 1 (20th November 2013) Authors: Pinson, Lucile; Mannini, Linda; Willems, Marjolaine; Cucco, Francesco; Sirvent, Nicolas; Frebourg, Thierry; Quarantotti, Valentina; Collet, Corinne; Schneider, Anouck; Sarda, Pierre; Geneviève, David; Puechberty, Jacques; Lefort, Geneviève; Musio, Antonio Journal: American journal of medical genetics Issue: Volume 164:Issue 1(2014.) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences. Issue 3 (9th December 2017) Authors: Heide, Solveig; Chantot-Bastaraud, Sandra; Keren, Boris; Harbison, Madeleine D; Azzi, Salah; Rossignol, Sylvie; Michot, Caroline; Lackmy-Port Lys, Marilyn; Demeer, Bénédicte; Heinrichs, Claudine; Newfield, Ron S; Sarda, Pierre; Van Maldergem, Lionel; Trifard, Véronique; Giabicani, Eloise; Siffroi... Journal: Journal of medical genetics Issue: Volume 55:Issue 3(2018) Page Start: 205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. Issue 2 (5th December 2013) Authors: Gueneau, Lucie; Duplomb, Laurence; Sarda, Pierre; Hamel, Christian; Aral, Bernard; Chehadeh, Salima El; Gigot, Nadège; St‐Onge, Judith; Callier, Patrick; Thevenon, Julien; Huet, Frédéric; Carmignac, Virginie; Droin, Nathalie; Faivre, Laurence; Thauvin‐Robinet, Christel Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 522 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. Issue 11 (28th August 2014) Authors: Redin, Claire; Gérard, Bénédicte; Lauer, Julia; Herenger, Yvan; Muller, Jean; Quartier, Angélique; Masurel-Paulet, Alice; Willems, Marjolaine; Lesca, Gaétan; El-Chehadeh, Salima; Le Gras, Stéphanie; Vicaire, Serge; Philipps, Muriel; Dumas, Michaël; Geoffroy, Véronique; Feger, Claire; Haumesser, N... Journal: Journal of medical genetics Issue: Volume 51:Issue 11(2014) Page Start: 724 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Further delineation of Malan syndrome. Issue 9 (25th June 2018) Authors: Priolo, Manuela; Schanze, Denny; Tatton‐Brown, Katrin; Mulder, Paul A.; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S.; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K.; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nu... Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Impaired Development of Neural‐Crest Cell‐Derived Organs and Intellectual Disability Caused by MED13L Haploinsufficiency. Issue 11 (23rd September 2014) Authors: Utami, Kagistia Hana; Winata, Cecilia Lanny; Hillmer, Axel M.; Aksoy, Irene; Long, Hoang Truong; Liany, Herty; Chew, Elaine G. Y.; Mathavan, Sinnakaruppan; Tay, Stacey K. H.; Korzh, Vladimir; Sarda, Pierre; Davila, Sonia; Cacheux, Valere Journal: Human mutation Issue: Volume 35:Issue 11(2014:Nov.) Page Start: 1311 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. Issue 12 (23rd August 2016) Authors: Dubourg, Christèle; Carré, Wilfrid; Hamdi‐Rozé, Houda; Mouden, Charlotte; Roume, Joëlle; Abdelmajid, Benmansour; Amram, Daniel; Baumann, Clarisse; Chassaing, Nicolas; Coubes, Christine; Faivre‐Olivier, Laurence; Ginglinger, Emmanuelle; Gonzales, Marie; Levy‐Mozziconacci, Annie; Lynch, Sally‐Ann; ... Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1329 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. New candidate loci identified by array‐CGH in a cohort of 100 children presenting with syndromic obesity. Issue 8 (29th April 2014) Authors: Vuillaume, Marie‐Laure; Naudion, Sophie; Banneau, Guillaume; Diene, Gwenaelle; Cartault, Audrey; Cailley, Dorothée; Bouron, Julie; Toutain, Jérôme; Bourrouillou, Georges; Vigouroux, Adeline; Bouneau, Laurence; Nacka, Fabienne; Kieffer, Isabelle; Arveiler, Benoit; Knoll‐Gellida, Anja; Babin, Patri... Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 1965 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. Issue 4 (27th November 2017) Authors: Legendre, Marine; Abadie, Véronique; Attié‐Bitach, Tania; Philip, Nicole; Busa, Tiffany; Bonneau, Dominique; Colin, Estelle; Dollfus, Hélène; Lacombe, Didier; Toutain, Annick; Blesson, Sophie; Julia, Sophie; Martin‐Coignard, Dominique; Geneviève, David; Leheup, Bruno; Odent, Sylvie; Jouk, Pierre‐... Other Names: van Ravenswaaij‐Arts Conny guestEditor.; Martin Donna M. guestEditor. Journal: American journal of medical genetics Issue: Volume 175:Issue 4(2017) Page Start: 417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗