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Results: 4

Authors: Rötig, Agnès Bessis, Jean-Louis Romero, Norma Cormier, Valerie Saudubray, Jean-Marie Narcy, Philippe Lenoir, Gérard Rustin, Pierre Munnich, Arnold
Citation: Rötig, Agnès et al., Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia., American journal of human genetics , 50-I(2), 1992, pp. 364-370

Authors: Poll-The, Bwee Tien Roels, Frank Ogier, Hélène Scotto, Jacques Vamecq, Joseph Schutgens, Ruud B. H. Wanders, Ronald I. A. Roermund, Carlo W. T. van Wijland, Michil J. A. van Schram, Adre W. Tager, Joseph M. Saudubray, Jean-Marie
Citation: Poll-the, Bwee Tien et al., A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of Acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy), American journal of human genetics , 42(3), 1988, pp. 422-434

Authors: Cormier, Valerie Rotig, Agnes Tardieu, Marc Colonna, Michel Saudubray, Jean-Marie Munnich, Arnold
Citation: Cormier, Valerie et al., Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy., American journal of human genetics , 48-II(4), 1991, pp. 643-648

Authors: Rey, Francoise Berthelon, Monique Caillaud, Catherine Lyonnet, Stanislas Abadie, Véronique Blandin-Savoja, Félicienne Feingold, Josue Saudubray, Jean-Marie Frézal, Jean Munich, Arnold Rey, Jean
Citation: Rey, Francoise et al., Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in france, American journal of human genetics , 43-II(6), 1988, pp. 914-921
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