檢索結果 - Jean‐Louis Dufier

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  1. 1
    Subtypes of Developmental Coordination Disorder: Research on Their Nature and Etiology

    Subtypes of Developmental Coordination Disorder: Research on Their Nature and Etiology 由 Laurence Vaivre‐Douret, Christophe Lalanne, I. Ingster-Moati, Nathalie Boddaert, D. Cabrol, Jean‐Louis Dufier, Bernard Golse, Bruno Falissard

    出版 2011
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  2. 2
    Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

    Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies 由 Jean‐Michel Rozet, S. Gerber, Eric H. Souied, Isabelle Perrault, Sophie Châtelin, Imad Ghazi, Corinne Leowski, Jean‐Louis Dufier, Arnold Munnich, Josseline Kaplan

    出版 1998
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  3. 3
    Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

    Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis 由 Isabelle Perrault, Sylvain Hanein, S. Gerber, Fabienne Barbet, Dominique Ducroq, Hélène Dollfus, Christian Hamel, Jean‐Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean‐Michel Rozet

    出版 2004
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  4. 4
    Spectrum of retGC1 mutations in Leber's congenital amaurosis

    Spectrum of retGC1 mutations in Leber's congenital amaurosis 由 Isabelle Perrault, Jean‐Michel Rozet, S. Gerber, Imad Ghazi, Dominique Ducroq, Eric H. Souied, Corinne Leowski, Michèle Bonnemaison, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan

    出版 2000
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  5. 5
    Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

    Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype 由 Isabelle Perrault, Nathalie Delphin, Sylvain Hanein, S. Gerber, Jean‐Louis Dufier, Olivier Roche, Sabine Defoort‐Dhellemmes, Hélène Dollfus, Elisa Fazzi, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet

    出版 2007
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  6. 6
    Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis

    Different Functional Outcome of RetGC1 and RPE65 Gene Mutations in Leber Congenital Amaurosis 由 Isabelle Perrault, Jean‐Michel Rozet, Imad Ghazi, Corinne Leowski, Michèle Bonnemaison, S. Gerber, Dominique Ducroq, Annick Cabot, Eric H. Souied, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan

    出版 1999
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  7. 7
    Histopathologic risk factors in retinoblastoma: A retrospective study of 172 patients treated in a single institution

    Histopathologic risk factors in retinoblastoma: A retrospective study of 172 patients treated in a single institution 由 Fatima Khelfaoui, Pierre Validire, Anne Aupérin, E. Quintana, Jean Michon, Hélène Pacquement, Laurence Desjardins, Bernard Asselain, P Schlienger, Philippe Vielh, Jean‐Louis Dufier, Jean‐Michel Zucker, François Doz

    出版 1996
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  8. 8
    Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

    Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis 由 S. Gerber, Isabelle Perrault, Sylvain Hanein, Fabienne Barbet, Dominique Ducroq, Imad Ghazi, Dominique Martin–Coignard, Corinne Leowski, Tessa Homfray, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet

    出版 2001
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  9. 9
    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 由 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

    出版 2006
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  10. 10
    Homozygous Deletion in the Coding Sequence of the c-mer Gene in RCS Rats Unravels General Mechanisms of Physiological Cell Adhesion and Apoptosis

    Homozygous Deletion in the Coding Sequence of the c-mer Gene in RCS Rats Unravels General Mechanisms of Physiological Cell Adhesion and Apoptosis 由 Emeline F. Nandrot, Éric Dufour, Alexandra Provost, Marie O. Péquignot, Sébastien Bonnel, Karı̈n Gogat, Dominique Marchant, Christelle Rouillac, Bertille Sépulchre de Condé, Marie‐Thérèse Bihoreau, Cindi Shaver, Jean‐Louis Dufier, C. Marsac, Mark Lathrop, M Ménasche, Marc Abitbol

    出版 2000
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  11. 11
    Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

    Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecula... 由 Sylvain Hanein, Isabelle Perrault, S. Gerber, Gaëlle Tanguy, Fabienne Barbet, Dominique Ducroq, Patrick Calvas, Hélène Dollfus, Christian Hamel, Tuija Löppönen, Francis L. Munier, Louisa Santos, Stavit A. Shalev, Dimitrios Zafeiriou, Jean‐Louis Dufier, Arnold Munnich, Jean‐Michel Rozet, Josseline Kaplan

    出版 2004
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  12. 12
    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy 由 Sylvain Hanein, Isabelle Perrault, Olivier Roche, S. Gerber, Noman Khadom, Marlène Rio, Nathalie Boddaert, Marc Jeanpierre, Nora Brahimi, Valérie Serre, Dominique Chrétien, Nathalie Delphin, Lucas Fares‐Taie, Sahran Lachheb, Agnès Rötig, Françoise Meire, Arnold Münnich, Jean‐Louis Dufier, Josseline Kaplan, Jean‐Michel Rozet

    出版 2009
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  13. 13
    Targeted resequencing identifies <i>PTCH1</i> as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

    Targeted resequencing identifies <i>PTCH1</i> as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network 由 Nicolas Chassaing, Erica E. Davis, Kelly McKnight, Adrienne R. Niederriter, Alexandre Causse, Véronique David, Annaïck Desmaison, Sophie Lamarre, Catherine Vincent‐Delorme, Laurent Pasquier, Christine Coubes, Didier Lacombe, Massimiliano Rossi, Jean‐Louis Dufier, Hélène Dollfus, Josseline Kaplan, Nicholas Katsanis, Heather Etchevers, Stanislas Faguer, Patrick Calvas

    出版 2016
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