Rezultati pretrage - Laurence Colleaux

Detaljiziraj rezultate
  1. 1
    Recognition and cleavage site of the intron-encoded omega transposase.

    Recognition and cleavage site of the intron-encoded omega transposase. od Laurence Colleaux, L d'Auriol, Francis Galibert, Bernard Dujon

    Izdano 1988
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  2. 2
    Purification and characterization of the<i>in vitro</i>activity of I-<i>Sce</i>I, a novel and highly specific endonuclease encoded by a group I intron

    Purification and characterization of the<i>in vitro</i>activity of I-<i>Sce</i>I, a novel and highly specific endonuclease encoded by a group I intron od Claude Monteilhet, Arnaud Perrin, Agnès Thierry, Laurence Colleaux, Bernard Dujon

    Izdano 1990
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  3. 3
    Between hope and reality: treatment of genetic diseases through nucleic acid-based drugs

    Between hope and reality: treatment of genetic diseases through nucleic acid-based drugs od Virginie Baylot, Thi Khanh Le, David Taïeb, Palma Rocchi, Laurence Colleaux

    Izdano 2024
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  4. 4
    The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders

    The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders od Carlos Cardoso, C. Mignon, Gilles Hetet, Bernard Grandchamps, Michel Fontés, Laurence Colleaux

    Izdano 2000
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  5. 5
    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 od Guntram Borck, Mohamed Zarhrate, Jean‐Paul Bonnefont, Arnold Münnich, Valérie Cormier‐Daire, Laurence Colleaux

    Izdano 2007
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  6. 6
    Castration-Resistant Prostate Cancer: From Uncovered Resistance Mechanisms to Current Treatments

    Castration-Resistant Prostate Cancer: From Uncovered Resistance Mechanisms to Current Treatments od Thi Khanh Le, Quang Hieu Duong, Virginie Baylot, Christelle Fargette, Michaël Baboudjian, Laurence Colleaux, David Taïeb, Palma Rocchi

    Izdano 2023
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  7. 7
    Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

    Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome od Richard Redon, Geneviève Baujat, Damien Sanlaville, Martine Le Merrer, Michel Vekemans, Arnold Münnich, Nigel P. Carter, Valérie Cormier‐Daire, Laurence Colleaux

    Izdano 2006
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  8. 8
    Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

    Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome od Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Münnich, Christine Gicquel, Valérie Cormier‐Daire, Laurence Colleaux

    Izdano 2004
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  9. 9
    Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

    Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Auto... od Jeanne Amiel, Marlène Rio, Loïc de Pontual, Richard Redon, Valérie Malan, Nathalie Boddaert, Perrine Plouin, Nigel P. Carter, Stanislas Lyonnet, Arnold Münnich, Laurence Colleaux

    Izdano 2007
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  10. 10
    Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders

    Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders od Lam Son Nguyen, Julien Fregeac, Christine Bôle‐Feysot, Nicolas Cagnard, Anand M. Iyer, Jasper J. Anink, Eleonora Aronica, Olivier Alibeu, Patrick Nitschké, Laurence Colleaux

    Izdano 2018
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  11. 11
    Mutations in the mitochondrial glutamate carrier <i>SLC25A22</i> in neonatal epileptic encephalopathy with suppression bursts

    Mutations in the mitochondrial glutamate carrier <i>SLC25A22</i> in neonatal epileptic encephalopathy with suppression bursts od Florence Molinari, Anna Kaminśka, Giuseppe Fiermonte, Nathalie Boddaert, Annick Raas‐Rothschild, P. Plouin, Luigi Palmieri, F Brunelle, Ferdinando Palmieri, Olivier Dulac, A Munnich, Laurence Colleaux

    Izdano 2009
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  12. 12
    Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels

    Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels od Grace Kim, Jack Kronengold, Giulia Barcia, Imran H. Quraishi, Hilary C. Martin, Edward Blair, Jenny C. Taylor, Olivier Dulac, Laurence Colleaux, Rima Nabbout, Leonard K. Kaczmarek

    Izdano 2014
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  13. 13
    Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

    Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation od Orianne Philippe, Marlène Rio, Astrid Carioux, Jean-Marc Plaza, Philippe Guigue, Florence Molinari, Nathalie Boddaert, Christine Bôle‐Feysot, Patrick Nitschké, Asma Smahi, Arnold Münnich, Laurence Colleaux

    Izdano 2009
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  14. 14
    Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology

    Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology od Lam Son Nguyen, Marylin Lepleux, M. Makhlouf, Christelle Martin, Julien Fregeac, Karine Siquier-Pernet, Anne Philippe, François Féron, Bruno Gepner, Claire Rougeulle, Yann Humeau, Laurence Colleaux

    Izdano 2016
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  15. 15
    Developmental Changes of the 26 S Proteasome in Abdominal Intersegmental Muscles of Manduca sexta during Programmed Cell Death

    Developmental Changes of the 26 S Proteasome in Abdominal Intersegmental Muscles of Manduca sexta during Programmed Cell Death od Stuart E. Reynolds, Michael A. Billett, Colin Gordon, Laurence Colleaux, Peter M. Kloetzel, Keiji Tanaka, Simon P. Dawson, Jane E. Arnold, Nicholas J. Mayer, R. John Mayer

    Izdano 1995
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  16. 16
    A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

    A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy od Lam Son Nguyen, Taiane Schneider, Marlène Rio, Sébastien Moutton, Karine Siquier-Pernet, Florine Verny, Nathalie Boddaert, Isabelle Desguerre, Arnold Munich, José Luís Rosa, Valérie Cormier‐Daire, Laurence Colleaux

    Izdano 2015
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  17. 17
    Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

    Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation od Florence Molinari, François Foulquier, Patrick Tarpey, Willy Morelle, Sarah Boissel, Jon W. Teague, Sarah Edkins, P. Andrew Futreal, Michael R. Stratton, Gillian Turner, Gert Matthijs, Jozef Gécz, Arnold Münnich, Laurence Colleaux

    Izdano 2008
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  18. 18
    High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

    High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect od Daniel Medina-Cano, Ekin Ucuncu, Lam Son Nguyen, Michaël Nicouleau, Joanna Lipecka, Jean‐Charles Bizot, Christian Thiel, François Foulquier, Nathalie Lefort, Catherine Faivre‐Sarrailh, Laurence Colleaux, Ida Chiara Guerrera, Vincent Cantagrel

    Izdano 2018
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  19. 19
    Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

    Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy od Florence Molinari, Annick Raas‐Rothschild, Marlène Rio, Giuseppe Fiermonte, Férechté Encha‐Razavi, Luigi Palmieri, Ferdinando Palmieri, Ziva Ben‐Neriah, Noman Kadhom, Michel Vekemans, Tania Attié‐Bitach, Arnold Münnich, Pierre Rustin, Laurence Colleaux

    Izdano 2005
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  20. 20
    Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

    Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature od Rami Abou Jamra, Orianne Philippe, Annick Raas‐Rothschild, Sebastian Eck, Elisabeth Graf, Rebecca Buchert, Guntram Borck, Arif B. Ekici, Felix F. Brockschmidt, Markus M. Nöthen, Arnold Münnich, Tim M. Strom, André Reis, Laurence Colleaux

    Izdano 2011
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