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. A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium. Issue 1 (13th November 2013) Authors: Thomas, Sophie; Wright, Kevin J.; Corre, Stéphanie Le; Micalizzi, Alessia; Romani, Marta; Abhyankar, Avinash; Saada, Julien; Perrault, Isabelle; Amiel, Jeanne; Litzler, Julie; Filhol, Emilie; Elkhartoufi, Nadia; Kwong, Mandy; Casanova, Jean‐Laurent; Boddaert, Nathalie; Baehr, Wolfgang; Lyonnet, S... Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A new lethal syndrome of exomphalos, short limbs, and macrogonadism. Issue 2 (1st February 1999) Authors: Faivre, Laurence; Delezoide, Anne-Lise; Narcy, Françoise; Razavi, Féréchté; Bouvier, Raymonde; Cormier-Daire, Valérie; Briard, Marie-Louise; Lyonnet, Stanislas; Vekemans, Michel; Munnich, Arnold; Le Merrer, Martine Journal: Journal of medical genetics Issue: Volume 36:Issue 2(1999) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Altered SOX9 genital tubercle enhancer region in hypospadias. Issue 170 (June 2017) Authors: Sreenivasan, Rajini; Gordon, Christopher T.; Benko, Sabina; de Iongh, Robb; Bagheri-Fam, Stefan; Lyonnet, Stanislas; Harley, Vincent Journal: Journal of steroid biochemistry and molecular biology Issue: Issue 170(2017) Page Start: 28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An automatic facial landmarking for children with rare diseases. Issue 5 (30th January 2023) Authors: Hennocq, Quentin; Bongibault, Thomas; Bizière, Matthieu; Delassus, Ombline; Douillet, Maxime; Cormier‐Daire, Valérie; Amiel, Jeanne; Lyonnet, Stanislas; Marlin, Sandrine; Rio, Marlène; Picard, Arnaud; Khonsari, Roman Hossein; Garcelon, Nicolas Journal: American journal of medical genetics Issue: Volume 191:Issue 5(2023) Page Start: 1210 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. Issue 11 (28th September 2012) Authors: Legendre, Marine; Gonzales, Marie; Goudefroye, Géraldine; Bilan, Frédéric; Parisot, Pauline; Perez, Marie-José; Bonnière, Maryse; Bessières, Bettina; Martinovic, Jelena; Delezoide, Anne-Lise; Jossic, Frédérique; Fallet-Bianco, Catherine; Bucourt, Martine; Tantau, Julia; Loget, Philippe; Loeuillet... Journal: Journal of medical genetics Issue: Volume 49:Issue 11(2012) Page Start: 698 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Arterial tortuosity syndrome: 40 new families and literature review. (October 2018) Authors: Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul; Cousin, Margot; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; ... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome?. Issue 7 (1st July 2001) Authors: Edery, Patrick; Le Deist, Françoise; Briard, Marie-Louise; Debré, Marianne; Munnich, Arnold; Griscelli, Claude; Fischer, Alain; Lyonnet, Stanislas Journal: Journal of medical genetics Issue: Volume 38:Issue 7(2001) Page Start: 488 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans. Issue 3 (9th April 2022) Authors: Guimier, Anne; de Pontual, Loïc; Braddock, Stephen R; Torti, Erin; Pérez-Jurado, Luis A; Muñoz-Cabello, Patricia; Arumí, Montserrat; Monaghan, Kristin G; Lee, Hane; Wang, Lee-kai; Pluym, Ilina D; Lynch, Sally Ann; Stals, Karen; Ellard, Sian; Muller, Cécile; Houyel, Lucile; Cohen, Laurence; Lyonne... Journal: Human molecular genetics Issue: Volume 32:Issue 3(2023) Page Start: 353 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. Issue 1 (5th October 2022) Authors: Jouret, Guillaume; Egloff, Matthieu; Landais, Emilie; Tassy, Olivier; Giuliano, Fabienne; Karmous‐Benailly, Houda; Coutton, Charles; Satre, Véronique; Devillard, Françoise; Dieterich, Klaus; Vieville, Gaëlle; Kuentz, Paul; le Caignec, Cédric; Beneteau, Claire; Isidor, Bertrand; Nizon, Mathilde; C... Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗