1. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Issue 11 (8th September 2016) Authors: Goldenberg, Alice; Riccardi, Florence; Tessier, Aude; Pfundt, Rolph; Busa, Tiffany; Cacciagli, Pierre; Capri, Yline; Coutton, Charles; Delahaye‐Duriez, Andree; Frebourg, Thierry; Gatinois, Vincent; Guerrot, Anne‐Marie; Genevieve, David; Lecoquierre, Francois; Jacquette, Aurélia; Khau Van Kien, Ph... Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2847 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. Issue 5 (15th March 2017) Authors: Issa, Sarah; Bondurand, Nadege; Faubert, Emmanuelle; Poisson, Sylvain; Lecerf, Laure; Nitschke, Patrick; Deggouj, Naima; Loundon, Natalie; Jonard, Laurence; David, Albert; Sznajer, Yves; Blanchet, Patricia; Marlin, Sandrine; Pingault, Veronique Journal: Human mutation Issue: Volume 38:Issue 5(2017) Page Start: 581 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. Issue 12 (10th December 2018) Authors: Lehalle, Daphné; Altunoglu, Umut; Bruel, Ange‐Line; Assoum, Mirna; Duffourd, Yannis; Masurel, Alice; Baujat, Geneviève; Bessieres, Bettina; Captier, Guillaume; Edery, Patrick; Elçioğlu, Nursel H.; Geneviève, David; Goldenberg, Alice; Héron, Delphine; Grotto, Sarah; Marlin, Sandrine; Putoux, Audre... Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2740 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. PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT. Issue 8 (August 2020) Authors: Khateb, Samer; Mohand-Saïd, Saddek; Nassisi, Marco; Bonnet, Crystel; Roux, Anne-Françoise; Andrieu, Camille; Antonio, Aline; Condroyer, Christel; Zeitz, Christina; Devisme, Céline; Loundon, Natalie; Marlin, Sandrine; Petit, Christine; Bodaghi, Bahram; Sahel, José-Alain; Audo, Isabelle Journal: Retina Issue: Volume 40:Issue 8(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Issue 3 (12th January 2013) Authors: Gordon, Christopher T; Vuillot, Alice; Marlin, Sandrine; Gerkes, Erica; Henderson, Alex; AlKindy, Adila; Holder-Espinasse, Muriel; Park, Sarah S; Omarjee, Asma; Sanchis-Borja, Mateo; Bdira, Eya Ben; Oufadem, Myriam; Sikkema-Raddatz, Birgit; Stewart, Alison; Palmer, Rodger; McGowan, Ruth; Petit, F... Journal: Journal of medical genetics Issue: Volume 50:Issue 3(2013) Page Start: 174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss. Issue 19 (31st May 2021) Authors: Bassani, Sissy; van Beelen, Edward; Rossel, Mireille; Voisin, Norine; Morgan, Anna; Arribat, Yoan; Chatron, Nicolas; Chrast, Jacqueline; Cocca, Massimiliano; Delprat, Benjamin; Faletra, Flavio; Giannuzzi, Giuliana; Guex, Nicolas; Machavoine, Roxane; Pradervand, Sylvain; Smits, Jeroen J; van de Ka... Journal: Human molecular genetics Issue: Volume 30:Issue 19(2021) Page Start: 1785 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D. Issue 5 (21st January 2022) Authors: Tharreau, Mylène; Garde, Aurore; Marlin, Sandrine; Morel, Godelieve; Ernest, Sylvain; Nambot, Sophie; Duffourd, Yannis; Ternoy, Ninon; Duvillard, Christian; Banka, Siddharth; Philippe, Christophe; Thauvin‐Robinet, Christel; Mau‐Them, Frederic Tran; Faivre, Laurence Journal: American journal of medical genetics Issue: Volume 188:Issue 5(2022) Page Start: 1600 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients. Issue 7 (21st April 2022) Authors: Lehalle, Daphné; Bruel, Ange‐Line; Vitobello, Antonio; Denommé‐Pichon, Anne‐Sophie; Duffourd, Yannis; Assoum, Mirna; Amiel, Jeanne; Baujat, Geneviève; Bessieres, Bettina; Bigoni, Stefania; Burglen, Lydie; Captier, Guillaume; Dard, Rodolphe; Edery, Patrick; Fortunato, Fernanda; Geneviève, David; G... Journal: American journal of medical genetics Issue: Volume 188:Issue 7(2022) Page Start: 2036 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The Calcineurin Inhibitor Tacrolimus as a New Therapy in Severe Cherubism. (16th April 2015) Authors: Kadlub, Natacha; Vazquez, Marie‐Paule; Galmiche, Louise; L'Herminé, Aurore Coulomb; Dainese, Linda; Ulinski, Tim; Fauroux, Brigitte; Pavlov, Ioana; Badoual, Cécile; Marlin, Sandrine; Deckert, Marcel; Leboulanger, Nicolas; Berdal, Ariane; Descroix, Vianney; Picard, Arnaud; Coudert, Amélie E Journal: Journal of bone and mineral research Issue: Volume 30:Number 5(2015:May) Page Start: 878 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗