1. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. Issue 1 (23rd October 2010) Authors: Lebre, A S; Rio, M; Faivre d'Arcier, L; Vernerey, D; Landrieu, P; Slama, A; Jardel, C; Laforêt, P; Rodriguez, D; Dorison, N; Galanaud, D; Chabrol, B; Paquis-Flucklinger, V; Grévent, D; Edvardson, S; Steffann, J; Funalot, B; Villeneuve, N; Valayannopoulos, V; de Lonlay, P Journal: Journal of medical genetics Issue: Volume 48:Issue 1(2011) Page Start: 16 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. Issue 11 (3rd August 2010) Authors: Bellanné-Chantelot, C; Saint-Martin, C; Ribeiro, M-J; Vaury, C; Verkarre, V; Arnoux, J-B; Valayannopoulos, V; Gobrecht, S; Sempoux, C; Rahier, J; Fournet, J-C; Jaubert, F; Aigrain, Y; Nihoul-Fékété, C; de Lonlay, P Journal: Journal of medical genetics Issue: Volume 47:Issue 11(2010) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations. Issue 7 (1st May 2014) Authors: Bricout, M; Grévent, D; Lebre, A S; Rio, M; Desguerre, I; De Lonlay, P; Valayannopoulos, V; Brunelle, F; Rötig, A; Munnich, A; Boddaert, N Journal: Journal of medical genetics Issue: Volume 51:Issue 7(2014) Page Start: 429 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. Issue 9 (15th July 2008) Authors: Laugel, V; Dalloz, C; Tobias, E S; Tolmie, J L; Martin-Coignard, D; Drouin-Garraud, V; Valayannopoulos, V; Sarasin, A; Dollfus, H Journal: Journal of medical genetics Issue: Volume 45:Issue 9(2008) Page Start: 564 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia). Issue 4 (8th April 2009) Authors: Romano, S; Bajolle, F; Valayannopoulos, V; Lyonnet, S; Colomb, V; de Baracé, C; Vouhe, P; Pouard, P; Vuillaumier-Barrot, S; Dupré, T; de Keyzer, Y; Sidi, D; Seta, N; Bonnet, D; de Lonlay, P Journal: Journal of medical genetics Issue: Volume 46:Issue 4(2009) Page Start: 287 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. Issue 7 (3rd May 2013) Authors: van de Kamp, J M; Betsalel, O T; Mercimek-Mahmutoglu, S; Abulhoul, L; Grünewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, M A; Cheillan, D; D'Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M Journal: Journal of medical genetics Issue: Volume 50:Issue 7(2013) Page Start: 463 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗