نتائج البحث - Patrick Nitschké

تنقيح النتائج
  1. 1
    XYLT1 Mutations in Desbuquois Dysplasia Type 2

    XYLT1 Mutations in Desbuquois Dysplasia Type 2 حسب Catherine Bui, Céline Huber, Beyhan Tüysüz, Yasemin Alanay, Christine Bôle‐Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschké, Arnold Münnich, Valérie Cormier‐Daire

    منشور في 2014
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    Artigo
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  2. 2
    The human gene connectome as a map of short cuts for morbid allele discovery

    The human gene connectome as a map of short cuts for morbid allele discovery حسب Yuval Itan, Shen‐Ying Zhang, Guillaume Vogt, Avinash Abhyankar, Melina Herman, Patrick Nitschké, Dror Fried, Lluís Quintana‐Murci, Laurent Abel, Jean‐Laurent Casanova

    منشور في 2013
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    Artigo
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  3. 3
    A human immunodeficiency caused by mutations in the PIK3R1 gene

    A human immunodeficiency caused by mutations in the PIK3R1 gene حسب Marie‐Céline Deau, Lucie Heurtier, Pierre Frange, Felipe Suárez, Christine Bôle‐Feysot, Patrick Nitschké, Marina Cavazzana, Capucine Pïcard, Anne Durandy, Alain Fischer, Sven Kracker

    منشور في 2014
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    Artigo
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  4. 4
    Antitumour activity of an inhibitor of miR-34a in liver cancer with β-catenin-mutations

    Antitumour activity of an inhibitor of miR-34a in liver cancer with β-catenin-mutations حسب Angélique Gougèlet, Chiara Sartor, Laura Bachelot, Cécile Godard, Carmen Marchiol, Gilles Renault, Frédéric Torès, Patrick Nitschké, Catherine Cavard, Benoît Terris, Christine Perret, Sabine Colnot

    منشور في 2015
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    Artigo
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  5. 5
    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 حسب Lam Son Nguyen, Julien Fregeac, Christine Bôle‐Feysot, Nicolas Cagnard, Anand M. Iyer, Jasper J. Anink, Eleonora Aronica, Olivier Alibeu, Patrick Nitschké, Laurence Colleaux

    منشور في 2018
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    Artigo
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  6. 6
    A human immunodeficiency caused by mutations in the PIK3R1 gene

    A human immunodeficiency caused by mutations in the PIK3R1 gene حسب Marie‐Céline Deau, Lucie Heurtier, Pierre Frange, Felipe Suárez, Christine Bole‐Feysot, Patrick Nitschké, Marina Cavazzana, Capucine Pïcard, Anne Durandy, Alain Fischer, Sven Kracker

    منشور في 2015
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    Errata/Corrigenda
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  7. 7
    HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

    HGCS: an online tool for prioritizing disease-causing gene variants by biological distance حسب Yuval Itan, Mark Mazel, Benjamin Mazel, Avinash Abhyankar, Patrick Nitschké, Lluı́s Quintana-Murci, Stéphanie Boisson‐Dupuis, Bertrand Boisson, Laurent Abel, Shen‐Ying Zhang, Jean‐Laurent Casanova

    منشور في 2014
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    Artigo
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  8. 8
    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 حسب 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

    منشور في 2009
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    Artigo
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  9. 9
    FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man

    FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man حسب Hila Barak, Sung‐Ho Huh, Shuang Chen, Marc Jeanpierre, Jéléna Martinovic, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Rémi Salomon, Corinne Antignac, David M. Ornitz, Raphael Kopan

    منشور في 2012
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    Artigo
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  10. 10
    Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

    Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome حسب Séverine Bacrot, Mathilde Doyard, Céline Huber, Olivier Alibeu, Niklas Feldhahn, Daphné Lehalle, Didier Lacombe, Sandrine Marlin, Patrick Nitschké, Florence Petit, Marie‐Paule Vazquez, Arnold Münnich, Valérie Cormier‐Daire

    منشور في 2014
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    Artigo
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  11. 11
    MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

    MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival حسب Nadine T. Nehme, Jana Pachlopnik Schmid, Franck Debeurme, Isabelle André‐Schmutz, Apiradee Lim, Patrick Nitschké, Frédéric Rieux‐Laucat, Patrick Lutz, Capucine Pïcard, Nizar Mahlaoui, Alain Fischer, Geneviève de Saint Basile

    منشور في 2011
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    Artigo
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  12. 12
    Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

    Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency حسب Vanessa Vedrenne, Gowher Ali, Pascale de Lonlay, Patrick Nitschké, Valérie Serre, Nathalie Boddaert, Cécilia Altuzarra, Anne-Marie Mager-Heckel, Florence Chretien, Nina Entelis, Arnold Münnich, Ivan Tarassov, Agnès Rötig

    منشور في 2012
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    Artigo
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  13. 13
    SLY regulates genes involved in chromatin remodeling and interacts with TBL1XR1 during sperm differentiation

    SLY regulates genes involved in chromatin remodeling and interacts with TBL1XR1 during sperm differentiation حسب C. Moretti, Maria‐Elisabetta Serrentino, Côme Ialy‐Radio, Marion Delessard, Tatiana Soboleva, Frédéric Torès, Marjorie Leduc, Patrick Nitschké, Joël R. Drevet, David J. Tremethick, Daniel Vaiman, Ayhan Kocer, Julie Cocquet

    منشور في 2017
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    Artigo
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  14. 14
    Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis

    Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis حسب Camille Louvrier, Éric Pasmant, Audrey Briand‐Suleau, Joëlle Cohen, Patrick Nitschké, Juliette Nectoux, Lucie Orhant, Cécile Zordan, Cyril Goizet, Stéphane Goutagny, Dominique Lallemand, Michel Vidaud, Dominique Vidaud, Michel Kalamarides, Béatrice Parfait

    منشور في 2018
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    Artigo
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  15. 15
    Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

    Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders حسب Solveig Montaut, Christine Tranchant, Nathalie Drouot, Gabrielle Rudolf, Claire Guissart, Julien Tarabeux, Tristan Stemmelen, Amandine Velt, Cécile Fourrage, Patrick Nitschké, Bénédicte Gérard, Jean‐Louis Mandel, Michel Kœnig, Jamel Chelly, Mathieu Anheim

    منشور في 2018
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    Artigo
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  16. 16
    Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect

    Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect حسب Julien Carvelli, Christelle Pipéroglou, Catherine Farnarier, Frédéric Vely, K. Mazodier, Sandra Audonnet, Patrick Nitschké, Christine Bôle‐Feysot, Mohamed Boucékine, Audrey Cambon, M. Hamidou, Jean‐Robert Harlé, Geneviève de Saint Basile, Gilles Kaplanski

    منشور في 2020
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    Artigo
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  17. 17
    Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing

    Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing حسب Vincent Morinière, Karin Dahan, Pascale Hilbert, Marieline Lison, Saïd Lebbah, Alexandra Topa, Christine Bôle‐Feysot, Solenn Pruvost, Patrick Nitschké, Emmanuelle Plaisier, Bertrand Knebelmann, Marie‐Alice Macher, Laure‐Hélène Noël, Marie‐Claire Gubler, Corinne Antignac, Laurence Heidet

    منشور في 2014
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  18. 18
    Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

    Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population حسب Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bôle‐Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio, Nadia Bahi‐Buisson, Isabelle Desguerre, Arnold Münnich, Nathalie Boddaert, Laurence Colleaux, Vincent Cantagrel

    منشور في 2016
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    Artigo
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  19. 19
    Heterozygous<i>RTEL1</i>mutations are associated with familial pulmonary fibrosis

    Heterozygous<i>RTEL1</i>mutations are associated with familial pulmonary fibrosis حسب Caroline Kannengiesser, Raphaël Borie, Christelle Ménard, Marion Réocreux, Patrick Nitschké, Steven Gazal, Hervé Mal, Camille Taillé, Jacques Cadranel, Hilario Nunès, Dominique Valeyre, J.-F. Cordier, Isabelle Callebaut, Cathérine Boileau, Vincent Cottin, Bernard Grandchamp, Patrick Revy, Bruno Crestani

    منشور في 2015
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    Artigo
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  20. 20
    Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

    Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation حسب Anthony Drecourt, Joël Babdor, Michaël Dussiot, Floriane Petit, Nicolas Goudin, Meriem Garfa-Traoré, Florence Habarou, Christine Bôle‐Feysot, Patrick Nitschké, Chris Ottolenghi, Metodi D. Metodiev, Valérie Serre, I. Desguerre, Nathalie Boddaert, Olivier Hermine, Arnold Münnich, Agnès Rötig

    منشور في 2018
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    Artigo
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