Kết quả tìm kiếm - Christophe Philippe

Tinh chỉnh kết quả
  1. 1
    The Signal Transducer and Activator of Transcription STAT5b Gene Is a New Partner of Retinoic Acid Receptor in Acute Promyelocytic-Like Leukaemia

    The Signal Transducer and Activator of Transcription STAT5b Gene Is a New Partner of Retinoic Acid Receptor in Acute Promyelocytic-Like Leukaemia Bằng Cécile Arnould, Christophe Philippe, Violaine Bourdon, M. J. Grégoire, Ruud Berger, Philippe Jonveaux

    Được phát hành 1999
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    Artigo
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  2. 2
    Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

    Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females Bằng Christophe Philippe, D. Amsallem, Christine Francannet, Laëtitia Lambert, Aline Saunier, F. Verneau, Philippe Jonveaux

    Được phát hành 2009
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  3. 3
    Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses

    Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses Bằng Christophe Philippe, Daniel Porter, Mark Emerton, Dan E. Wells, A. Hamish, R. W. Simpson, Anthony P. Monaco

    Được phát hành 1997
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  4. 4
    Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

    Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions Bằng Mylène Béri‐Dexheimer, Véronique Latger‐Cannard, Christophe Philippe, Céline Bonnet, Pascal Chambon, Virginie Roth, Marie‐José Gregoire, Pierre Bordigoni, Thomas Lecompte, Bruno Leheup, Philippe Jonveaux

    Được phát hành 2008
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  5. 5
    A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility

    A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implicat... Bằng Silvia Bione, Cinzia Sala, M. Chiara Manzini, Giulia Arrigo, Orsetta Zuffardi, Sandro Banfi, Giuseppe Borsani, Philippe Jonveaux, Christophe Philippe, Maurizio Zuccotti, Andrea Ballabio, Daniela Toniolo

    Được phát hành 1998
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    Artigo
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  6. 6
    The UTX gene escapes X inactivation in mice and humans

    The UTX gene escapes X inactivation in mice and humans Bằng Andy Greenfield, Laura Carrel, David J. Pennisi, Christophe Philippe, Nandita Quaderi, Pamela Siggers, Kirsten A. Steiner, Patrick Tam, Anthony P. Monaco, Huntington F. Willard, Peter Koopman

    Được phát hành 1998
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    Artigo
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  7. 7
    14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

    14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements Bằng Lila Allou, Laëtitia Lambert, D. Amsallem, Éric Bieth, Patrick Edery, Anne Destrèe, François Rivier, David J. Amor, Elizabeth Thompson, Julian Nicholl, Michael Harbord, Christophe Némos, Aline Saunier, Aissa Moustaïne, Adeline Vigouroux, Philippe Jonveaux, Christophe Philippe

    Được phát hành 2012
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  8. 8
    A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy

    A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy Bằng Anna Lauritano, Sébastien Moutton, Elena Longobardi, Frédéric Tran Mau‐Them, Giusy Laudati, Piera Nappi, Maria Virginia Soldovieri, Paolo Ambrosino, Mauro Cataldi, Thibaud Jouan, Daphné Lehalle, Hélène Maurey, Christophe Philippe, Francesco Miceli, Antonio Vitobello, Maurizio Taglialatela

    Được phát hành 2019
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  9. 9
    Patient with a heterozygous pathogenic variant in <scp><i>CSNK2A1</i></scp> gene: A new case to update the <scp>Okur–Chung</scp> neurodevelopmental syndrome

    Patient with a heterozygous pathogenic variant in <scp><i>CSNK2A1</i></scp> gene: A new case to update the <scp>Okur–Chung</scp> neurodevelopmental syndrome Bằng A Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Florence Müller, J. Colné, François Feillet, Emmanuelle Schmitt, Matheus Augusto Araújo Castro, Jullian Savatt, Adriano Burcheri, Christophe Némos, Christophe Philippe, Laëtitia Lambert

    Được phát hành 2024
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    Artigo
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  10. 10
    Key clinical features to identify girls with CDKL5 mutations

    Key clinical features to identify girls with CDKL5 mutations Bằng Nadia Bahi‐Buisson, Juliette Nectoux, Haydeé Rosas‐Vargas, Mathieu Milh, Nathalie Boddaert, Benoı̂t Girard, Claude Cancès, Dorothée Ville, Alexandra Afenjar, Marlène Rio, Delphine Héron, Marie Ange N'Guyen Morel, Alexis Arzimanoglou, Christophe Philippe, Philippe Jonveaux, Jamel Chelly, Thierry Bienvenu

    Được phát hành 2008
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    Artigo
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  11. 11
    Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

    Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders Bằng Véronique Latger‐Cannard, Christophe Philippe, Alexandre Bouquet, Véronique Baccini, Marie‐Christine Alessi, Annick Ankri, Anne Bauters, Sophie Bayart, Pascale Cornillet‐Lefèbvre, Sylvie Daliphard, Julien Mozziconacci, Aline Renneville, Paola Ballerini, Guy Leverger, Hagay Sobol, Philippe Jonveaux, Claude Preudhomme, Paquita Nurden, Thomas Lecompte, Rémi Favier

    Được phát hành 2016
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  12. 12
    Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

    Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing Bằng Ange‐Line Bruel, Sophie Nambot, Virginie Quéré, Antonio Vitobello, Julien Thévenon, Mirna Assoum, Sébastien Moutton, Nada Houcinat, Daphné Lehalle, Nolwenn Jean‐Marçais, Martin Chevarin, Thibaud Jouan, Charlotte Pöe, Patrick Callier, Emilie Tisserand, Christophe Philippe, Frédéric Tran Mau‐Them, Yannis Duffourd, Laurence Faivre, Christel Thauvin‐Robinet

    Được phát hành 2019
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    Artigo
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  13. 13
    NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

    NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients Bằng Michele Bertacchi, Anna Lisa Romano, Agnès Loubat, Frédéric Tran Mau‐Them, Marjolaine Willems, Laurence Faivre, Philippe Khau Van Kien, Laurence Perrin, Françoise Devillard, Arthur Sorlin, Paul Kuentz, Christophe Philippe, Aurore Garde, Francesco Neri, Rossella Di Giaimo, Salvatore Oliviero, Silvia Cappello, Ludovico D’Incerti, Carolina Frassoni, Michèle Studer

    Được phát hành 2020
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  14. 14
    Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

    Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase Bằng Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, Laurence Michel‐Calemard, Marie‐Pierre Moizard, Rafaëlle Bernard, Mireille Cossée, Pierre Boisseau, Martine Blayau, Isabelle Creveaux, Anne Guiochon‐Mantel, Bérengère de Martinville, Christophe Philippe, Nicole Monnier, Éric Bieth, Philippe Khau Van Kien, François-Olivier Desmet, Véronique Humbertclaude, Jean‐Claude Kaplan, Jamel Chelly, Mireille Claustres

    Được phát hành 2009
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  15. 15
    Cohen syndrome is associated with major glycosylation defects

    Cohen syndrome is associated with major glycosylation defects Bằng Laurence Duplomb, Sandrine Duvet, Damien Picot, Gaëtan Jégo, Salima El Chehadeh-Djebbar, Nathalie Marle, Nadège Gigot, Bernard Aral, Virginie Carmignac, Julien Thévenon, Estelle Lopez, Jean‐Baptiste Rivière, André Klein, Christophe Philippe, Nathalie Droin, Edward Blair, François Girodon, Jean Donadieu, Christine Bellanné‐Chantelot, Laurent Delva, Jean‐Claude Michalski, Éric Solary, Laurence Faivre, François Foulquier, Christel Thauvin‐Robinet

    Được phát hành 2013
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  16. 16
    Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

    Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis Bằng Sophie Nambot, Julien Thévenon, Paul Kuentz, Yannis Duffourd, Émilie Tisserant, Ange‐Line Bruel, Anne‐Laure Mosca‐Boidron, Alice Masurel‐Paulet, Daphné Lehalle, Nolwenn Jean‐Marçais, Mathilde Lefebvre, P. Vabres, Salima El Chehadeh-Djebbar, Christophe Philippe, Frédéric Tran Mau‐Them, Judith St‐Onge, Thibaud Jouan, Martin Chevarin, Charlotte Pöe, Virginie Carmignac, Antonio Vitobello, Patrick Callier, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet

    Được phát hành 2017
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  17. 17
    Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

    Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation Bằng Maud Jordan, Virginie Carmignac, Arthur Sorlin, Paul Kuentz, Juliette Albuisson, Luca Borradori, E. Bourrat, Odile Boute, Nenad Bukvić, A.‐C. Bursztejn, C. Chiavérini, Bruno Delobel, Marine Fournet, Jehanne Martel, Alice Goldenberg, S. Hadj‐Rabia, A. Mahé, A. Maruani, J. Mazereeuw‐Hautier, Cyril Mignot, Fanny Morice‐Picard, Marie‐Laure Moutard, Florence Petit, Justine Pasteur, Alice Phan, Sandra Whalen, Marjolaine Willems, Christophe Philippe, P. Vabres

    Được phát hành 2019
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    Carta
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  18. 18
    Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

    Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 Bằng Hanyin Cheng, Leah Gottlieb, Elaine Marchi, Robert Kleyner, Puja Bhardwaj, Alan F. Rope, Sarah Rosenheck, Sébastien Moutton, Christophe Philippe, Wafaa Eyaid, Fowzan S. Alkuraya, Janet Toribio, Rafael Mena, Carlos E. Prada, Holly A.F. Stessman, Raphael Bernier, Marieke Wermuth, Brice Kauffmann, Bettina Blaumeiser, R. Frank Kooy, Diana Baralle, Grazia M.S. Mancini, Simon J. Conway, Fan Xia, Chen Zhao, Linyan Meng, Ljubisa Mihajlovic, Ronen Marmorstein, Gholson J. Lyon

    Được phát hành 2019
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  19. 19
    Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

    Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life Bằng Julien Thévenon, Mathieu Milh, François Feillet, Judith St‐Onge, Yannis Duffourd, Clara Jugé, Agathe Roubertie, Delphine Héron, Cyril Mignot, Emmanuel Raffo, Bertrand Isidor, Sandra Wahlen, Damien Sanlaville, Nathalie Villeneuve, Véronique Darmency‐Stamboul, Annick Toutain, Mathilde Lefebvre, Mondher Chouchane, Frédéric Huet, Arnaud Lafon, Anne de Saint Martin, Gaëtan Lesca, Salima El Chehadeh, Christel Thauvin‐Robinet, Alice Masurel‐Paulet, Sylvie Odent, Laurent Villard, Christophe Philippe, Laurence Faivre, Jean‐Baptiste Rivière

    Được phát hành 2014
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  20. 20
    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy Bằng Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, C. Paris, Jessica Douglas, Gaëtan Lesca, Stylianos E. Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, C. Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin‐Robinet, Jean‐Baptiste Rivière, Laurence Faivre, Julien Thévenon

    Được phát hành 2016
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