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Results: 1-10 |
Results: 10
The Nuclear Factor .B.Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset
Authors: Maystadt, Isabelle Rezsöhazy, René Barkats, Martine Duque, Sandra Vannuffel, Pascal Remacle, Sophie Lambert, Barbara Najimi, Mustapha Sokal, Etienne Munnich, Arnold Viollet, Louis Verellen-Dumoulin, Christine
Citation: Maystadt, Isabelle et al., The Nuclear Factor .B.Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset, American journal of human genetics , 81(1), 2007, pp. 67-76
Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome
Authors: Dagoneau, Nathalie Scheffer, Deborah Huber, Céline Al-Gazali, Lihadh I. Di Rocco, Maja Godard, Anne Martinovic, Jelena Raas-Rothschild, Annick Sigaudy, Sabine Unger, Sheila Nicole, Sophie Fontaine, Bertrand Taupin, Jean-Luc Moreau, Jean-François Superti-Fuga, Andrea Le Merrer, Martine Bonaventure, Jacky Munnich, Arnold Legeai-Mallet, Laurence Cormier-Daire, Valérie
Citation: Dagoneau, Nathalie et al., Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome, American journal of human genetics , 74(2), 2004, pp. 298-305
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.
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
PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome
Authors: Trochet, Delphine O'Brien, Louise M. Gozal, David Trang, Ha Nordenskjöld, Agneta Laudier, Béatrice Svensson, Pär-Johan Uhrig, Sabine Cole, Trevor Munnich, Arnold Gaultier, Claude Lyonnet, Stanislas Amiel, Jeanne
Citation: Trochet, Delphine et al., PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome, American journal of human genetics , 76(3), 2005, pp. 421-426
Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome
Authors: Karmous-Benailly, Houda Martinovic, Jelena Gubler, Marie-Claire Sirot, Yoann Clech, Laure Ozilou, Catherine Augé, Joëlle Brahimi, Nora Etchevers, Heather Detrait, Eric Esculpavit, Chantal Audollent, Sophie Goudefroye, Géraldine Gonzales, Marie Tantau, Julia Loget, Philippe Joubert, Madeleine Gaillard, Dominique Jeanne-Pasquier, Corinne Delezoide, Anne-Lise Peter, Marie-Odile Plessis, Ghislaine Simon-Bouy, Brigitte Dollfus, Hélène Le Merrer, Martine Munnich, Arnold Encha-Razavi, Férechté Vekemans, Michel Attié-Bitach, Tania
Citation: Karmous-benailly, Houda et al., Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome, American journal of human genetics , 76(3), 2005, pp. 493-504
Molecular genetics of phenylketonuria in mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency
Authors: Lyonnet, Stanislas Caillaud, Catherine Rey, Françoise Berthelon, Monique Frézal, Jean Rey, Jean Munnich, Arnold
Citation: Lyonnet, Stanislas et al., Molecular genetics of phenylketonuria in mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency, American journal of human genetics , 44(4), 1989, pp. 511-517
Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis
Authors: Perrault, Isabelle Hanein, Sylvain Gerber, Sylvie Barbet, Fabienne Ducroq, Dominique Dollfus, Helene Hamel, Christian Dufier, Jean-Louis Munnich, Arnold Kaplan, Josseline Rozet, Jean-Michal
Citation: Perrault, Isabelle et al., Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis, American journal of human genetics , 75(4), 2004, pp. 639-646
Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.
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
ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome
Authors: Dagoneau, Nathalie Benoist-Lasselin, Catherine Huber, Céline Faivre, Laurence Mégarbané, André Alswaid, Abdulrahman Dollfus, Hélène Alembik, Yves Munnich, Arnold Legeai-Mallet, Laurence Cormier-Daire, Valérie
Citation: Dagoneau, Nathalie et al., ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome, American journal of human genetics , 75(5), 2004, pp. 801-806
Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.
Authors: Labrune, Philippe Melle, Dominique Rey, Fransoise Berthelon, Monique Caillaud, Catherine Rey, Jean Munnich, Arnold Lyonnet, Stanislas
Citation: Labrune, Philippe et al., Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria., American journal of human genetics , 48-II(6), 1991, pp. 1115-1120
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