Torthaí cuardaigh - Dominique Martin

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  1. 1
    The involvement of patient organisations in rare disease research: a mixed methods study in Australia

    The involvement of patient organisations in rare disease research: a mixed methods study in Australia de réir Deirdre Pinto, Dominique Martin, Richard Chenhall

    Foilsithe / Cruthaithe 2016
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  2. 2
    Involvement of TRPC in the abnormal calcium influx observed in dystrophic (<i>mdx</i>) mouse skeletal muscle fibers

    Involvement of TRPC in the abnormal calcium influx observed in dystrophic (<i>mdx</i>) mouse skeletal muscle fibers de réir Clarisse Vandebrouck, Dominique Martin, M. Colson‐Van Schoor, Huguette Debaix, Philippe Gailly

    Foilsithe / Cruthaithe 2002
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  3. 3
    The response of lipoprotein lipase to feeding and fasting. Evidence for posttranslational regulation.

    The response of lipoprotein lipase to feeding and fasting. Evidence for posttranslational regulation. de réir Mark H. Doolittle, Osnat Ben-Zeev, John Elovson, Dominique Martin, Todd G. Kirchgessner

    Foilsithe / Cruthaithe 1990
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  4. 4
    Short-term surgical missions to resource-limited settings in the wake of the COVID-19 pandemic

    Short-term surgical missions to resource-limited settings in the wake of the COVID-19 pandemic de réir Calum Honeyman, Vinod Patel, Fernando Almas, Daniel Bradley, Dominique Martin, Mark McGurk

    Foilsithe / Cruthaithe 2020
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  5. 5
    Living and Deceased Organ Donation Should Be Financially Neutral Acts

    Living and Deceased Organ Donation Should Be Financially Neutral Acts de réir Francis L. Delmonico, Dominique Martin, Beatriz Domínguez‐Gil, Elmi Muller, Vivekanand Jha, Adeera Levin, Gabriel M. Danovitch, Alexander Morgan Capron

    Foilsithe / Cruthaithe 2015
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  6. 6
    Antimalarial Activity of 77 Phospholipid Polar Head Analogs: Close Correlation Between Inhibition of Phospholipid Metabolism and In Vitro Plasmodium Falciparum Growth

    Antimalarial Activity of 77 Phospholipid Polar Head Analogs: Close Correlation Between Inhibition of Phospholipid Metabolism and In Vitro Plasmodium Falciparum Growth de réir Marie‐Laure Ancelin, Michèle Calas, Jacques Bompart, Gérard Cordina, Dominique Martin, Mohammed Ben Bari, Taı̈b Jei, Pierre Druilhe, Henri Vial

    Foilsithe / Cruthaithe 1998
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  7. 7
    Ethical issues in dialysis therapy

    Ethical issues in dialysis therapy de réir Vivekanand Jha, Dominique Martin, Joanne M. Bargman, Simon Davies, John Feehally, Fred Finkelstein, David C.H. Harris, Madhukar Misra, Giuseppe Remuzzi, Adeera Levin

    Foilsithe / Cruthaithe 2017
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  8. 8
    Protocol for a Systematic Review of Outcomes From Microsurgical Free Tissue Transfer Performed on Short-term Surgical Missions in Low-income and Middle-income Countries

    Protocol for a Systematic Review of Outcomes From Microsurgical Free Tissue Transfer Performed on Short-term Surgical Missions in Low-income and Middle-income Countries de réir Henry T. de Berker, Urška Čebron, Daniel Bradley, Vinod Patel, Meklit Berhane, Fernando Almas, Gary M. Walton, Mekonen Eshete, Mark McGurk, Dominique Martin, Calum Honeyman

    Foilsithe / Cruthaithe 2021
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  9. 9
    Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

    Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis de réir S. Gerber, Isabelle Perrault, Sylvain Hanein, Fabienne Barbet, Dominique Ducroq, Imad Ghazi, Dominique Martin–Coignard, Corinne Leowski, Tessa Homfray, Jean‐Louis Dufier, Arnold Münnich, Josseline Kaplan, Jean‐Michel Rozet

    Foilsithe / Cruthaithe 2001
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  10. 10
    Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

    Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families de réir Virpi Leppä, Stephanie N. Kravitz, Alastair J. Martin, Joris Andrieux, Cédric Le Caignec, Dominique Martin–Coignard, Christina T. DyBuncio, Stephan Sanders, Jennifer K. Lowe, Rita M. Cantor, Daniel H. Geschwind

    Foilsithe / Cruthaithe 2016
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  11. 11
    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome

    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome de réir Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, Thierry Gaillon, Julia Rankin, Michèle Mathieu‐Dramard, G Morin, Dominique Martin–Coignard, Christèle Dubourg, B. Chabrol, Jacqueline Arfi, Fabienne Giuliano, Jean Claude Lambert, Nicole Philip, Pierre Sarda, Laurent Villard, Michel Goossens, Anne Moncla

    Foilsithe / Cruthaithe 2008
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  12. 12
    Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

    Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families de réir Marjorlaine Willems, D. Genevieve, Guntram Borck, Clarisse Baumann, Geneviève Baujat, Éric Bieth, Patrick Edery, Chantal Farra, M. Gerard, Delphine Héron, Bruno Leheup, M Le Merrer, Stanislas Lyonnet, Dominique Martin–Coignard, M Mathieu, Christel Thauvin‐Robinet, Alain Verloès, Laurence Colleaux, Arnold Münnich, Valérie Cormier‐Daire

    Foilsithe / Cruthaithe 2009
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  13. 13
    Organ Trafficking and Transplant Tourism

    Organ Trafficking and Transplant Tourism de réir Gabriel M. Danovitch, Jeremy R. Chapman, Alexander Morgan Capron, Adeera Levin, Mário Abbud‐Filho, Mustafa Al Mousawi, William M. Bennett, Debra Budiani-Saberi, William Couser, Ian Dittmer, Vivekanand Jha, Jacob Lavee, Dominique Martin, Marwan Masri, Saraladevi Naicker, Shiro Takahara, Annika Tibell, F A Shaheen, Anantharaman Vathsala, Francis L. Delmonico

    Foilsithe / Cruthaithe 2013
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  14. 14
    Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

    Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort de réir Haifa Hichri, Corinne Stoetzel, Virginie Laurier, Solenne Caron, Sabine Sigaudy, Pierre Sarda, Christian Hamel, Dominique Martin–Coignard, Gilles Morin, Bruno Leheup, Mureille Holder, Josseline Kaplan, Pierre Bitoun, Didier Lacombe, Alain Verloès, Dominique Bonneau, Fabienne Perrin‐Schmitt, Christian Brandt, Anne-Françoise Besancon, Jean‐Louis Mandel, Mireille Cossée, Hélène Dollfus

    Foilsithe / Cruthaithe 2005
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  15. 15
    Understanding the Brain-based Determination of Death When Organ Recovery Is Performed With DCDD In Situ Normothermic Regional Perfusion

    Understanding the Brain-based Determination of Death When Organ Recovery Is Performed With DCDD In Situ Normothermic Regional Perfusion de réir James L. Bernat, Beatriz Domínguez‐Gil, Alexandra K. Glazier, Dale Gardiner, Alexander R. Manara, Sam D. Shemie, Robert J. Porte, Dominique Martin, Helen Opdam, Andrew McGee, Marta López‐Fraga, Michel Rayar, Thomas Kerforne, Mirela Bušić, Renato Romagnoli, Marinella Zanierato, Stefan G. Tullius, Eduardo Miñambres, Mario Royo-Villanova, Francis L. Delmonico

    Foilsithe / Cruthaithe 2023
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  16. 16
    Targeting p21Cip1 highly expressing cells in adipose tissue alleviates insulin resistance in obesity

    Targeting p21Cip1 highly expressing cells in adipose tissue alleviates insulin resistance in obesity de réir Lichao Wang, Binsheng Wang, Nathan Gasek, Yueying Zhou, Rachel L. Cohn, Dominique Martin, Wu‐Lin Zuo, William F. Flynn, Guo Chun, Evan R. Jellison, Tae‐Wan Kim, Larissa Prata, Allyson K. Palmer, Ming Li, Christina L. Inman, Lauren S. Barber, Iman M. Al‐Naggar, Yanjiao Zhou, Wenqiang Du, Kshitiz Gupta, George A. Kuchel, Alexander Meves, Tamar Tchkonia, James L. Kirkland, Paul Robson, Ming Xu

    Foilsithe / Cruthaithe 2022
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  17. 17
    Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

    Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia de réir Nicolas Chassaing, Alexandre Causse, Adeline Vigouroux, Andrée Delahaye‐Duriez, Jean‐Luc Alessandri, Odile Boespflug‐Tanguy, Odile Boute‐Bénéjean, Hélène Dollfus, Bénédicte Duban‐Bedu, Brigitte Gilbert‐Dussardier, Fabienne Giuliano, M. Gonzalés, Muriel Holder‐Espinasse, Bertrand Isidor, M. Jacquemont, Didier Lacombe, Dominique Martin–Coignard, M. Mathieu‐Dramard, Sylvie Odent, Olivier Picone, L Pinson, Chloé Quēlin, Sabine Sigaudy, Annick Toutain, Christel Thauvin-Robinet, Josseline Kaplan, Patrick Calvas

    Foilsithe / Cruthaithe 2013
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  18. 18
    First clinical-grade porcine kidney xenotransplant using a human decedent model

    First clinical-grade porcine kidney xenotransplant using a human decedent model de réir Paige M. Porrett, Babak J. Orandi, Vineeta Kumar, Julie A. Houp, Douglas J. Anderson, A. Cozette Killian, Vera Hauptfeld‐Dolejsek, Dominique Martin, Sara Macedon, Natalie Budd, Katherine L. Stegner, Amy Dandro, Maria Kokkinaki, Kasinath Kuravi, Rhiannon D. Reed, Huma Fatima, John T. Killian, Gavin Baker, Jackson Perry, Emma Wright, Matthew D. Cheung, Elise N. Erman, Karl Kraebber, Tracy L. Gamblin, Linda Guy, James F. George, David Ayares, Jayme E. Locke

    Foilsithe / Cruthaithe 2022
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  19. 19
    A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

    A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH de réir Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth–Bolard, Jérôme Toutain, Chantal Missirian, Cédric Le Caignec, Anne Bazin, Marie Christine de Blois, Paul Kuentz, Marie Catty, Agnès Choiset, Ghislaine Plessis, Audrey Basinko, Pascaline Létard, Elisabeth Flori, Mélanie Jimenez, Mylène Valduga, Emilie Landais, Hakima Lallaoui, François Cartault, James Lespinasse, Dominique Martin–Coignard, Patrick Callier, Céline Pebrel‐Richard, Marie-France Portnoı̈, Tiffany Busa, Aline Receveur, Florence Amblard, Catherine Yardin, Radu Harbuz, Fabienne Prieur, Nathalie Le Meur, Eva Pipiras, Pascale Kleinfinger, François Vialard, Martine Doco‐Fenzy

    Foilsithe / Cruthaithe 2015
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  20. 20
    Mutation update for the<i>CSB</i>/<i>ERCC6</i>and<i>CSA</i>/<i>ERCC8</i>genes involved in Cockayne syndrome

    Mutation update for the<i>CSB</i>/<i>ERCC6</i>and<i>CSA</i>/<i>ERCC8</i>genes involved in Cockayne syndrome de réir Vincent Laugel, C Dalloz, M. Durand, Florence Sauvanaud, Ulrik Kristensen, M.-C. Vincent, Laurent Pasquier, S. Odent, Valérie Cormier‐Daire, Blanca Gener, Edward S. Tobias, John Tolmie, Dominique Martin–Coignard, Valérie Drouin‐Garraud, D. Héron, Hubert Journel, Emmanuel Raffo, Jacqueline Vigneron, Stanislas Lyonnet, Victoria Murday, D. Gubser-Mercati, Benoît Funalot, L A Brueton, Jaime Sánchez del Pozo, Esteban Muñoz, AR Gennery, Mustafa A. Salih, Mehrdad Noruzinia, Katrina Prescott, Lina Ramos, Zornitza Stark, Karen Fieggen, B. Chabrol, P. Sardá, Patrick Edery, Agnès Bloch‐Zupan, Heather Fawcett, D Pham, J.M. Egly, Alan R. Lehmann, Alain Sarasin, Hélène Dollfus

    Foilsithe / Cruthaithe 2009
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