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Citation: J. Amiel et al., Prenatal diagnosis of respiratory chain deficiency by direct mutation screening, PRENAT DIAG, 21(7), 2001, pp. 602-604

Authors: Benit, P Bonnefont, JP Mostefa, AK Francannet, C Munnich, A Ray, PF

Citation: P. Benit et al., Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis, PRENAT DIAG, 21(4), 2001, pp. 279-283

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Citation: P. Benit et al., Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency, AM J HU GEN, 68(6), 2001, pp. 1344-1352

Authors: Benit, P Kara-Mostefa, A Berthelon, M Sengmany, K Munnich, A Bonnefont, JP

Citation: P. Benit et al., Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography, HUM MUTAT, 16(5), 2000, pp. 417-421

Authors: Benit, P Rey, F Blandin-Savoja, F Munnich, A Abadie, V Rey, J

Citation: P. Benit et al., The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency, MOL GEN MET, 68(1), 1999, pp. 43-47

Authors: Benit, P Kara-Mostefa, A Hadj-Rabia, S Munnich, A Bonnefont, JP

Citation: P. Benit et al., Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations, HUM MUTAT, 14(5), 1999, pp. 428-432