1. Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: A case report. Issue 7 (12th April 2019) Authors: Baer, Sarah; Schaefer, Élise; Michot, Caroline; Fischbach, Michel; Morelle, Guillaume; Bendavid, Matthieu; Castelle, Martin; Moshous, Despina; Collet, Corinne Journal: Pediatric blood & cancer Issue: Volume 66:Issue 7(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation. Issue 10 (13th August 2022) Authors: Maillard, Pierre‐Yves; Baer, Sarah; Schaefer, Élise; Desnous, Béatrice; Villeneuve, Nathalie; Lépine, Anne; Fabre, Alexandre; Lacoste, Caroline; El Chehadeh, Salima; Piton, Amélie; Porter, Louise Frances; Perriard, Caroline; Wardé, Marie‐Thérèse Abi; Spitz, Marie‐Aude; Laugel, Vincent; Lesca, Gaë... Journal: Epilepsia Issue: Volume 63:Issue 10(2022) Page Start: 2519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗