Hasil Pencarian - Arnold Munnich

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  1. 1
    The CLDN5 gene at the blood-brain barrier in health and disease

    The CLDN5 gene at the blood-brain barrier in health and disease oleh Yosuke Hashimoto, Chris Greene, Arnold Munnich, Matthew Campbell

    Diterbitkan 2023-03-01
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  2. 2
    Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation

    Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation oleh Caroline Demily, Charlyne Duwime, Alice Poisson, Nathalie Boddaert, Arnold Munnich

    Diterbitkan 2017-03-01
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  3. 3
    Authors' reply — Clozapine for mitochondrial psychosis

    Authors' reply — Clozapine for mitochondrial psychosis oleh Caroline Demily, Charlyne Duwime, Alice Poisson, Nathalie Boddaert, Arnold Munnich

    Diterbitkan 2017-03-01
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  4. 4
    Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

    Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells oleh Xavier Gérard, Isabelle Perrault, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet

    Diterbitkan 2015-01-01
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  5. 5
    GeneRetriever: software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays

    GeneRetriever: software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays oleh Mathieu Clément-Ziza, Yehuda Brody, Arnold Munnich, Stanislas Lyonnet, Claude Besmond

    Diterbitkan 2005-08-01
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  6. 6
    Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus

    Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus oleh Judith Rixt Brouwer, Aline Huguet, Annie Nicole, Arnold Munnich, Geneviève Gourdon

    Diterbitkan 2013-01-01
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  7. 7
    CTG trinucleotide repeat "big jumps": large expansions, small mice.

    CTG trinucleotide repeat "big jumps": large expansions, small mice. oleh Mário Gomes-Pereira, Laurent Foiry, Annie Nicole, Aline Huguet, Claudine Junien, Arnold Munnich, Geneviève Gourdon

    Diterbitkan 2007-04-01
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  8. 8
    MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice.

    MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice. oleh Stéphanie Tomé, Ian Holt, Winfried Edelmann, Glenn E Morris, Arnold Munnich, Christopher E Pearson, Geneviève Gourdon

    Diterbitkan 2009-05-01
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  9. 9
    The Computerized Adaptable Test Battery (BMT-i) for Rapid Assessment of Children's Academic Skills and Cognitive Functions: A Validation Study

    The Computerized Adaptable Test Battery (BMT-i) for Rapid Assessment of Children's Academic Skills and Cognitive Functions: A Validation Study oleh Catherine Billard, Eric Thiébaut, Sahawanatou Gassama, Sahawanatou Gassama, Monique Touzin, Monique Touzin, Jean-Christophe Thalabard, Anne Mirassou, Arnold Munnich

    Diterbitkan 2021-07-01
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  10. 10
    Expanding the clinical spectrum of MTTF mutations

    Expanding the clinical spectrum of MTTF mutations oleh Giulia Barcia, Zahra Assouline, Alessandra Pennisi, Julie Steffann, Nathalie Boddaert, Cyril Gitiaux, Agnès Rötig, Jean-Paul Bonnefont, Arnold Munnich

    Diterbitkan 2019-12-01
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  11. 11
    Nuclear outsourcing of RNA interference components to human mitochondria.

    Nuclear outsourcing of RNA interference components to human mitochondria. oleh Simonetta Bandiera, Silvia Rüberg, Muriel Girard, Nicolas Cagnard, Sylvain Hanein, Dominique Chrétien, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude

    Diterbitkan 2011-01-01
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  12. 12
    ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.

    ISL1 directly regulates FGF10 transcription during human cardiac outflow formation. oleh Christelle Golzio, Emmanuelle Havis, Philippe Daubas, Gregory Nuel, Candice Babarit, Arnold Munnich, Michel Vekemans, Stéphane Zaffran, Stanislas Lyonnet, Heather C Etchevers

    Diterbitkan 2012-01-01
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  13. 13
    External Validation of BMT-i Computerized Test Battery for Diagnosis of Learning Disabilities

    External Validation of BMT-i Computerized Test Battery for Diagnosis of Learning Disabilities oleh Catherine Billard, Camille Jung, Arnold Munnich, Sahawanatou Gassama, Sahawanatou Gassama, Monique Touzin, Monique Touzin, Anne Mirassou, Thiébaut-Noël Willig, Thiébaut-Noël Willig

    Diterbitkan 2021-10-01
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  14. 14
    Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.

    Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia. oleh Simonetta Bandiera, François Cartault, Anne-Sophie Jannot, Elie Hatem, Muriel Girard, Laila Rifai, Clemence Loiseau, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude

    Diterbitkan 2013-01-01
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  15. 15
    New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling.

    New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling. oleh Laurent Schibler, Linda Gibbs, Catherine Benoist-Lasselin, Charles Decraene, Jelena Martinovic, Philippe Loget, Anne-Lise Delezoide, Marie Gonzales, Arnold Munnich, Jean-Philippe Jais, Laurence Legeai-Mallet

    Diterbitkan 2009-01-01
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  16. 16
    AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

    AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation oleh Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlèene Rio, Arnold Munnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean-Michel Rozet

    Diterbitkan 2012-01-01
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  17. 17
    Data from Artificial Models of Mitochondrial DNA Disorders Are Not Always Applicable to Humans

    Data from Artificial Models of Mitochondrial DNA Disorders Are Not Always Applicable to Humans oleh Julie Steffann, Nadine Gigarel, David C. Samuels, Sophie Monnot, Roxana Borghese, Laetitia Hesters, Nelly Frydman, Philippe Burlet, René Frydman, Alexandra Benachi, Agnes Rotig, Arnold Munnich, Jean-Paul Bonnefont

    Diterbitkan 2014-05-01
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  18. 18
    The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

    The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. oleh Cybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, Valérie Delague, Nabil Kaci, Jean-Pierre Desvignes, Zoha Kibar, José-Mario Capo-Chichi, Eliane Chouery, Arnold Munnich, Valérie Cormier-Daire, André Mégarbané

    Diterbitkan 2014-05-01
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  19. 19
    rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration.

    rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration. oleh Jennyfer Zerbib, Johanna M Seddon, Florence Richard, Robyn Reynolds, Nicolas Leveziel, Pascale Benlian, Patrick Borel, Josué Feingold, Arnold Munnich, Gisèle Soubrane, Josseline Kaplan, Jean-Michel Rozet, Eric H Souied

    Diterbitkan 2009-10-01
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  20. 20
    Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy

    Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy oleh Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Benedetta Ruzzenente, Metodi D. Metodiev

    Diterbitkan 2023-02-01
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