1. 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A. Issue 9 (6th July 2020) Authors: Niclass, Tanguy; Le Guyader, Gwenael; Beneteau, Claire; Joubert, Madeleine; Pizzuti, Antonio; Giuffrida, Maria Grazia; Bernardini, Laura; Gilbert‐Dussardier, Brigitte; Bilan, Frederic; Egloff, Matthieu Journal: American journal of medical genetics Issue: Volume 182:Issue 9(2020) Page Start: 2133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Gardos channelopathy associated with nonimmune hydrops and fetal loss. Issue 6 (13th September 2022) Authors: Ghesh, Leïla; Besnard, Thomas; Joubert, Madeleine; Picard, Véronique; Le Vaillant, Claudine; Beneteau, Claire Journal: Clinical genetics Issue: Volume 102:Issue 6(2022) Page Start: 543 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations. Issue 7 (8th April 2014) Authors: Isidor, Bertrand; Lefebvre, Tiphaine; Le Vaillant, Claudine; Caillaud, Gaëlle; Faivre, Laurence; Jossic, Frédéric; Joubert, Madeleine; Winer, Norbert; Le Caignec, Cédric; Borck, Guntram; Pelet, Anna; Amiel, Jeanne; Toutain, Annick; Ronce, Nathalie; Raynaud, Martine; Verloes, Alain; David, Albert Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1821 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome sequencing identifies the first genetic determinants of sirenomelia in humans. Issue 5 (1st March 2020) Authors: Lecoquierre, François; Brehin, Anne‐Claire; Coutant, Sophie; Coursimault, Juliette; Bazin, Anne; Finck, Wilfrid; Benoist, Guillaume; Begorre, Marianne; Beneteau, Claire; Cailliez, Daniel; Chenal, Pierre; De Jong, Mirjam; Degré, Sophie; Devisme, Louise; Francannet, Christine; Gérard, Bénédicte; Je... Journal: Human mutation Issue: Volume 41:Issue 5(2020) Page Start: 926 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases4. (6th July 2016) Authors: Duval, Hélène; Michel‐Calemard, Laurence; Gonzales, Marie; Loget, Philippe; Beneteau, Claire; Buenerd, Annie; Joubert, Madeleine; Denis‐Musquer, Marielee; Clemenson, Alix; Chesnais, Anne‐Laure; Blesson, Sophie; De Pinieux, Isabelle; Delezoide, Anne‐Lise; Bonyhay, Gheorghe; Bellanné‐Chantelot, Chr... Journal: Prenatal diagnosis Issue: Volume 36:Number 8(2016) Page Start: 744 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Issue 10 (29th July 2022) Authors: Hardcastle, Amy; Berry, Aliska M.; Campbell, Ian M.; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E.; Rosenfeld, Jill A.; Sisoudiya, Saumya D.; Hernandez‐Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L.; Capolino, Rossella; Digilio, Maria C.; Graziani, Ludovico;... Journal: American journal of medical genetics Issue: Volume 188:Issue 10(2022) Page Start: 2958 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Large Cell Neuroendocrine Carcinoma of the Nasopharynx. Issue 6 (August 2015) Authors: Dumars, Clotilde; Thebaud, Estelle; Joubert, Madeleine; Renaudin, Karine; Cariou-Patron, Gwenaëlle; Heymann, Marie-Françoise Journal: Journal of pediatric hematology/oncology Issue: Volume 37:Issue 6(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Large Cell Neuroendocrine Carcinoma of the Nasopharynx: A Pediatric Case. Issue 6 (August 2015) Authors: Dumars, Clotilde; Thebaud, Estelle; Joubert, Madeleine; Renaudin, Karine; Cariou-Patron, Gwenaëlle; Heymann, Marie-Françoise Journal: Journal of pediatric hematology/oncology Issue: Volume 37:Issue 6(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi–Hünermann–Happle Syndrome. (December 2018) Authors: Pacault, Mathilde; Vincent, Marie; Besnard, Thomas; Kannengiesser, Caroline; Bénéteau, Claire; Barbarot, Sébastien; Latypova, Xénia; Belabbas, Khaldia; Lamazière, Antonin; Winer, Norbert; Joubert, Madeleine; Bézieau, Stéphane; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Leclerc-Mercier, S... Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1784 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis. Issue 5 (12th December 2022) Authors: Ghesh, Leïla; Désir, Julie; Haye, Damien; Le Tanno, Pauline; Devillard, Françoise; Cogné, Benjamin; Marangoni, Martina; Tecco, Laura; Heron, Delphine; Le Vaillant, Claudine; Joubert, Madeleine; Beneteau, Claire Journal: Clinical genetics Issue: Volume 103:Issue 5(2023) Page Start: 560 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗