Výsledky vyhledávání - Vincent Marion

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  1. 1
    Effect of Cosmetic Ceramics on Fracture Toughness of All-Ceramic Restorations

    Effect of Cosmetic Ceramics on Fracture Toughness of All-Ceramic Restorations Autor Cetik, Sibel, Vincent, Marion, Atash, Ramin

    Vydáno 2018
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  2. 2
    Postural performance and strategy in the unipedal stance of soccer players at different levels of competition.

    Postural performance and strategy in the unipedal stance of soccer players at different levels of competition. Autor Thierry Paillard, Frédéric Noé, Terence Rivière, Vincent Marion, Richard Montoya, Philippe Dupui

    Vydáno 2006
    Artigo
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  3. 3
    Haplotypes of the EPCR gene, plasma sEPCR levels and the risk of deep venous thrombosis

    Haplotypes of the EPCR gene, plasma sEPCR levels and the risk of deep venous thrombosis Autor Shirley Uitte de Willige, Vincent Marion, Frits R. Rosendaal, Hans L. Vos, Marieke C. Visser, Rogier M. Bertina

    Vydáno 2004
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  4. 4
    Pharmacological Modulation of the Retinal Unfolded Protein Response in Bardet-Biedl Syndrome Reduces Apoptosis and Preserves Light Detection Ability

    Pharmacological Modulation of the Retinal Unfolded Protein Response in Bardet-Biedl Syndrome Reduces Apoptosis and Preserves Light Detection Ability Autor Anaïs Mockel, Cathy Obringer, Theodorus B. M. Hakvoort, Mathias W. Seeliger, Wouter H. Lamers, Corinne Stoetzel, Hélène Dollfus, Vincent Marion

    Vydáno 2012
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  5. 5
    Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

    Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation Autor Vincent Marion, Corinne Stoetzel, Dominique Schlicht, Nadia Messaddeq, Michael Koch, Elisabeth Flori, Jean Marc Danse, Jean‐Louis Mandel, Hélène Dollfus

    Vydáno 2009
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  6. 6
    Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption

    Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption Autor Vincent Marion, Dominique Schlicht, Anaïs Mockel, Sophie Caillard, O. Imhoff, Corinne Stoetzel, Paul van Dijk, Christian Brandt, Bruno Moulin, Hélène Dollfus

    Vydáno 2011
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  7. 7
    Fibrinogen A Thr312Ala polymorphism is associated with chronic thromboembolic pulmonary hypertension

    Fibrinogen A Thr312Ala polymorphism is associated with chronic thromboembolic pulmonary hypertension Autor J. Suntharalingam, Kimberley Goldsmith, Vincent Marion, Lü Long, Carmen Treacy, Frank Dudbridge, Mark Toshner, Joanna Pepke‐Żaba, Jeroen Eikenboom, Nicholas W. Morrell

    Vydáno 2007
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  8. 8
    Bardet-Biedl Syndrome

    Bardet-Biedl Syndrome Autor O. Imhoff, Vincent Marion, Corinne Stoetzel, M. Durand, Muriel Holder, Sabine Sigaudy, Pierre Sarda, Christian P. Hamel, Christian Brandt, Hélène Dollfus, Bruno Moulin

    Vydáno 2010
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  9. 9
    Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects

    Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects Autor Agnès Bloch‐Zupan, Xavier Jamet, Christelle Etard, Virginie Laugel, Jean Muller, Véronique Geoffroy, Jean-Pierre Strauss, Valérie Pelletier, Vincent Marion, Olivier Poch, Uwe Strähle, Corinne Stoetzel, Hélène Dollfus

    Vydáno 2011
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  10. 10
    Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit<i>BBIP1</i>(<i>BBS18</i>)

    Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit<i>BBIP1</i>(<i>BBS18</i>) Autor Sophie Scheidecker, Christelle Etard, Nathan W. Pierce, Véronique Geoffroy, Élise Schaefer, Jean Muller, Kirsley Chennen, Elisabeth Flori, Valérie Pelletier, Olivier Poch, Vincent Marion, Corinne Stoetzel, Uwe Strähle, Maxence V. Nachury, Hélène Dollfus

    Vydáno 2013
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  11. 11
    BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response

    BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response Autor Vincent Marion, Anaïs Mockel, Charlie De Melo, Cathy Obringer, Aurélie Claussmann, Alban Simon, Nadia Messaddeq, M. Durand, Luc Dupuis, Jean‐Philippe Loeffler, Peter King, Catherine Schmidt‐Mutter, Nikolai Petrovsky, Corinne Stoetzel, Hélène Dollfus

    Vydáno 2012
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  12. 12
    Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

    Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy Autor Sophie Scheidecker, Christelle Etard, Laurence Haren, Corinne Stoetzel, Sarah Hull, Gavin Arno, Vincent Plagnol, Séverine Drunat, Sandrine Passemard, Annick Toutain, Cathy Obringer, M. Koob, Véronique Geoffroy, Vincent Marion, Uwe Strähle, Pia Østergaard, Alain Verloès, Andreas Merdes, Anthony T. Moore, Hélène Dollfus

    Vydáno 2015
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  13. 13
    Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age

    Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age Autor Judith Eschbach, Jérôme Sinniger, Jamal Bouitbir, Anissa Fergani, Anna-Isabel Schlagowski, Joffrey Zoll, Bernard Gény, Frédérique René, Yves Larmet, Vincent Marion, Robert H. Baloh, Matthew B. Harms, Michael E. Shy, Nadia Messadeq, Patrick Weydt, Jean‐Philippe Loeffler, Albert C. Ludolph, Luc Dupuis

    Vydáno 2013
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  14. 14
    Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD

    Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD Autor Jeroen Eikenboom, Vincent Marion, Hein Putter, Anne Goodeve, Francesco Rodeghiero, Giancarlo Castaman, A B Federici, Javier Batlle, Dominique Meyer, Claudine Mazurier, Jenny Goudemand, Reinhard Schneppenheim, Ulrich Budde, J. Ingerslev, Z Vorlová, David Habart, Lars Holmberg, Stefan Lethagen, John Pasi, F. G. H. Hill, I. R. Peake

    Vydáno 2006
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  15. 15
    Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

    Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly Autor Élise Schaefer, Ariane Zaloszyc, Julia Lauer, M. Durand, Fanny Stutzmann, Y. Perdomo-Trujillo, Claire Redin, V. Bennouna Greene, Annick Toutain, Laurence Perrin, Marion Gérard, Sophie Caillard, Xiaoshu Bei, Richard A. Lewis, D Christmann, J. Letsch, M. Kribs, Catherine Schmidt‐Mutter, Jean Muller, Corinne Stoetzel, Michel Fischbach, Vincent Marion, Nicholas Katsanis, Hélène Dollfus

    Vydáno 2010
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  16. 16
    Consensus clinical management guidelines for Alström syndrome

    Consensus clinical management guidelines for Alström syndrome Autor Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay‐Aygun, Francesca Dassie, Vincent Marion, M. Valenti, Kerry Leeson-Beevers, A Chivers, Richard P. Steeds, Timothy Barrett, Tarekegn Geberhiwot

    Vydáno 2020
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  17. 17
    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease Autor Jean Muller, Corinne Stoetzel, M. C. Vincent, Carmen C. Leitch, Virginie Laurier, Jean Marc Danse, Sophie Hellé, Vincent Marion, V Bennouna-Greene, Serge Vicaire, André Mégarbané, Josseline Kaplan, Valérie Drouin‐Garraud, M. Hamdani, Sabine Sigaudy, Christine Francannet, J. Roume, Pierre Bitoun, Alice Goldenberg, N. Philip, Sylvie Odent, J. Green, Mireille Cossée, Erica E. Davis, Nicholas Katsanis, Dominique Bonneau, Alain Verloès, Olivier Poch, Jean‐Louis Mandel, Hélène Dollfus

    Vydáno 2010
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