نتائج البحث - Jean‐Paul Bonnefont

تنقيح النتائج
  1. 1
    Bezafibrate for an Inborn Mitochondrial Beta-Oxidation Defect

    Bezafibrate for an Inborn Mitochondrial Beta-Oxidation Defect حسب Jean‐Paul Bonnefont, Jean Bastin, Anthony Béhin, Fatima Djouadi

    منشور في 2009
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  2. 2
    Could Failure in Preimplantation Genetic Diagnosis Justify Editing the Human Embryo Genome?

    Could Failure in Preimplantation Genetic Diagnosis Justify Editing the Human Embryo Genome? حسب Julie Steffann, Pierre Jouannet, Jean‐Paul Bonnefont, Hervé Chneiweiss, Nelly Frydman

    منشور في 2018
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  3. 3
    Incidence and clinical features of X-linked Cornelia de Lange syndrome due toSMC1L1 mutations

    Incidence and clinical features of X-linked Cornelia de Lange syndrome due toSMC1L1 mutations حسب Guntram Borck, Mohamed Zarhrate, Jean‐Paul Bonnefont, Arnold Münnich, Valérie Cormier‐Daire, Laurence Colleaux

    منشور في 2007
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  4. 4
    Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

    Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II defic... حسب France Demaugre, Jean‐Paul Bonnefont, Marco Colonna, Claude Cepanec, J.P. Leroux, J. M. Saudubray

    منشور في 1991
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  5. 5
    A Deficiency of Carnitine–Acylcarnitine Translocase in the Inner Mitochondrial Membrane

    A Deficiency of Carnitine–Acylcarnitine Translocase in the Inner Mitochondrial Membrane حسب Charles A. Stanley, Daniel E. Hale, Gerard T. Berry, Susan Deleeuw, Jay Boxer, Jean‐Paul Bonnefont

    منشور في 1992
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  6. 6
    Enrichment, Immunomorphological, and Genetic Characterization of Fetal Cells Circulating in Maternal Blood

    Enrichment, Immunomorphological, and Genetic Characterization of Fetal Cells Circulating in Maternal Blood حسب Giovanna Vona, Christophe Béroud, Alexandra Benachi, Alice Quenette, Jean‐Paul Bonnefont, Serge Romana, Yves Dumez, Bernard Lacour, Patrizia Paterlini-Bréchot

    منشور في 2002
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  7. 7
    Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

    Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities حسب France Demaugre, Jean‐Paul Bonnefont, Grant Mitchell, Nam Nguyen-Hoang, Anna Pelet, Marco Rimoldi, Stefano Di Donato, Jean-Marie Saudubray

    منشور في 1988
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  8. 8
    Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

    Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy حسب Isabelle Valnot, Sandrine Osmond, Nadine Gigarel, Blandine Mehaye, Jeanne Amiel, Valérie Cormier‐Daire, Arnold Münnich, Jean‐Paul Bonnefont, Pierre Rustin, Agnès Rötig

    منشور في 2000
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  9. 9
    Refined Characterization of the Expression and Stability of the SMN Gene Products

    Refined Characterization of the Expression and Stability of the SMN Gene Products حسب Jérémie Vitte, Coralie Fassier, Francesco Danilo Tiziano, Cécile Dalard, Sabrina Soave, Natacha Roblot, Christine Brahe, Pascale Saugier‐Veber, Jean‐Paul Bonnefont, Judith Melki

    منشور في 2007
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  10. 10
    Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

    Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. حسب Agnès Rötig, Valérie Cormier‐Daire, Stéphane Blanche, Jean‐Paul Bonnefont, F Ledeist, Norma B. Romero, J. Schmitz, Pierre Rustin, Alain Fischer, Jean‐Marie Saudubray

    منشور في 1990
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  11. 11
    Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

    Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. حسب Grant A. Mitchell, Damian Labuda, G Fontaine, Jean Marie Saudubray, Jean‐Paul Bonnefont, Stanislas Lyonnet, Lawrence C. Brody, Gary Steel, Cassandra Obie, David Valle

    منشور في 1991
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  12. 12
    A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome

    A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome حسب Zahra Assouline, Marguerite Jambou, Marlène Rio, Christine Bôle‐Feysot, Pascale de Lonlay, Christine Barnérias, Isabelle Desguerre, C. Bonnemains, C. Guillermet, Julie Steffann, Arnold Münnich, Jean‐Paul Bonnefont, Agnès Rötig, A.S. Lebre

    منشور في 2012
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  13. 13
    Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

    Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system حسب Sophie Monnot, Nadine Gigarel, David C. Samuels, Philippe Burlet, Laëtitia Hesters, Nelly Frydman, René Frydman, Violaine Kerbrat, Benoît Funalot, Jéléna Martinovic, Alexandra Benachi, Josué Feingold, Arnold Münnich, Jean‐Paul Bonnefont, Julie Steffann

    منشور في 2010
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  14. 14
    Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

    Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias حسب Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, Jean‐Baptiste Arnoux, Valérie Barbier, Florence Habarou, Isabelle Desguerre, Nathalie Boddaert, Jean‐Paul Bonnefont, Cécile Acquaviva, Jean‐François Benoist, Daniel Rabier, Guy Touati, Pascale de Lonlay

    منشور في 2013
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  15. 15
    Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

    Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling حسب Valérie Pelletier, Marguerite Jambou, Nathalie Delphin, Elena Zinovieva, Morgane Stum, Nadine Gigarel, Hélène Dollfus, Christian Hamel, Annick Toutain, Jean‐Louis Dufier, Olivier Roche, Arnold Münnich, Jean‐Paul Bonnefont, Josseline Kaplan, Jean‐Michel Rozet

    منشور في 2006
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  16. 16
    Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

    Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations حسب Francesca Fusco, Alessandra Pescatore, Élodie Bal, Aïda Ghoul, Mariateresa Paciolla, Maria Brigida Lioi, Michele D’Urso, S. Hadj‐Rabia, Christine Bodemer, Jean‐Paul Bonnefont, Arnold Münnich, Maria Giuseppina Miano, Asma Smahi, Matilde Valeria Ursini

    منشور في 2008
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  17. 17
    Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care

    Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care حسب Helton Estrela Ramos, Mélina Morandini, Aurore Carré, Elodie Tron, Corinne Floch, Laurent Mandelbrot, Nathalie Neri, Benoit De Sarcus, Albane Simon, Jean‐Paul Bonnefont, Jeanne Amiel, Isabelle Desguerre, Vassili Valayannopoulos, Mireille Castanet, Michel Polak

    منشور في 2010
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  18. 18
    Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.

    Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pan... حسب Pascale de Lonlay, Jean Fournet, Jacques Rahier, M S Gross-Morand, F Poggi-Travert, V. Foussier, Jean‐Paul Bonnefont, M.C. Brusset, Françis Brunelle, Jean Jacques Robert, Claire Nihoul‐Feketé, Jean‐Marie Saudubray, Claudine Junien

    منشور في 1997
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  19. 19
    Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

    Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients حسب Anaïs Brassier, Stéphanie Gobin, Jean Baptiste Arnoux, Vassili Valayannopoulos, Florence Habarou, Manoëlle Kossorotoff, Aude Servais, Valérie Barbier, Sandrine Dubois, Guy Touati, Robert Barouki, Fabrice Lesage, Laurent Dupic, Jean‐Paul Bonnefont, Chris Ottolenghi, Pascale de Lonlay

    منشور في 2015
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  20. 20
    An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

    An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature حسب Justine Lerat, Laurence Jonard, Natalie Loundon, Sophie Christin‐Maître, Didier Lacombe, Cyril Goizet, Cécile Rouzier, Lionel Van Maldergem, Souad Gherbi, Éréa-Noël Garabédian, Jean‐Paul Bonnefont, Philippe Touraine, Isabelle Mösnier, Arnold Münnich, Françoise Denoyelle, Sandrine Marlin

    منشور في 2016
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