1. A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies. Issue 4 (27th August 2021) Authors: Treiber, Guillaume; Flaus Furmaniuk, Ania; Guilleux, Alice; Medjane, Samir; Bonfanti, Oriane; Schneebeli, Stéphane; Bernard, Céline; Le-Moullec, Nathalie; Bakiri, Faouzi; Pholsena, Maryse; Rollot, Olivier; Vatier, Camille; Jarlet, Eric; Jéru, Isabelle; Lascols, Olivier; Darcel, Françoise; Domun, ... Journal: European journal of endocrinology Issue: Volume 185:Issue 4(2021) Page Start: 453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling. Issue 3 (28th July 2020) Authors: Baer, Sarah; Obringer, Cathy; Julia, Sophie; Chelly, Jameleddine; Capri, Yline; Gras, Domitille; Baujat, Geneviève; Felix, Têmis Maria; Doray, Berenice; Sanchez del Pozo, Jaime; Ramos, Lina M.; Burglen, Lydie; Laugel, Vincent; Calmels, Nadège Journal: Clinical genetics Issue: Volume 98:Issue 3(2020) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study. Issue 2 (19th November 2014) Authors: McGivern, Mark R; Best, Kate E; Rankin, Judith; Wellesley, Diana; Greenlees, Ruth; Addor, Marie-Claude; Arriola, Larraitz; de Walle, Hermien; Barisic, Ingeborg; Beres, Judit; Bianchi, Fabrizio; Calzolari, Elisa; Doray, Berenice; Draper, Elizabeth S; Garne, Ester; Gatt, Miriam; Haeusler, Martin; K... Journal: Archives of disease in childhood Issue: Volume 100:Issue 2(2015) Page Start: F137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Epidemiology of small intestinal atresia in Europe: a register-based study. Issue 5 (29th August 2012) Authors: Best, Kate E; Tennant, Peter W G; Addor, Marie-Claude; Bianchi, Fabrizio; Boyd, Patricia; Calzolari, Elisa; Dias, Carlos Matias; Doray, Berenice; Draper, Elizabeth; Garne, Ester; Gatt, Miriam; Greenlees, Ruth; Haeusler, Martin; Khoshnood, Babak; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Rand... Journal: Archives of disease in childhood Issue: Volume 97:Issue 5(2012) Page Start: F353 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Hirschsprung's disease prevalence in Europe: A register based study. Issue 9 (26th July 2014) Authors: Best, Kate E.; Addor, Marie‐Claude; Arriola, Larraitz; Balku, Eszter; Barisic, Ingeborg; Bianchi, Fabrizio; Calzolari, Elisa; Curran, Rhonda; Doray, Berenice; Draper, Elizabeth; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Bergman, Jorieke; Khoshnood, Babak; Klungsoyr, Kari; Martos, Carmen; Mate... Journal: Birth defects research Issue: Volume 100:Issue 9(2014:Sep.) Page Start: 695 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies. (3rd May 2016) Authors: Dolk, Helen; Wang, Hao; Loane, Maria; Morris, Joan; Garne, Ester; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian; Barisic, Ingeborg; Doray, Berenice; Gatt, Miriam; Kallen, Karin; Khoshnood, Babak; Klungsoyr, Kari; Lahesmaa-Korpinen, Anna-Maria; Latos-Bielenska, Anna; Mejnartowicz, Jan P.;... Journal: Neurology Issue: Volume 86:Number 18(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. Issue 9 (6th August 2015) Authors: Brioude, Frederic; Netchine, Irène; Praz, Francoise; Le Jule, Marilyne; Calmel, Claire; Lacombe, Didier; Edery, Patrick; Catala, Martin; Odent, Sylvie; Isidor, Bertrand; Lyonnet, Stanislas; Sigaudy, Sabine; Leheup, Bruno; Audebert‐Bellanger, Séverine; Burglen, Lydie; Giuliano, Fabienne; Alessandr... Journal: Human mutation Issue: Volume 36:Issue 9(2015:Sep.) Page Start: 894 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Not All Floating‐Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP. Issue 1 (16th October 2012) Authors: Goff, Carine Le; Mahaut, Clémentine; Bottani, Armand; Doray, Berenice; Goldenberg, Alice; Moncla, Anne; Odent, Sylvie; Nitschke, Patrick; Munnich, Arnold; Faivre, Laurence; Cormier‐Daire, Valérie Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 88 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗