Výsledky vyhledávání - M Mathieu
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Clinical features and prognosis of paraquat poisoning in French Guiana Autor Narcisse Elenga, Caroline Merlin, Rémi Le Guern, Rémi Kom-Tchameni, Yves-Marie Ducrot, M. Pradier, Balthazar Ntab, Kim-Anh Dinh-Van, M. Sobesky, Daniel Mathieu, J.M. Dueymes, Gérald Egmann, Hatem Kallel, M. Mathieu-Nolf
Vydáno 2018Revisão -
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Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families Autor 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
Vydáno 2009Artigo -
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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia Autor 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
Vydáno 2013Artigo -
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Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech Autor Céline Bonnet, Joris Andrieux, Mylène Béri‐Dexheimer, B. Leheup, O. Boute, S. Manouvrier, B Delobel, H. Copin, Aline Receveur, M Mathieu, G. Thiriez, C. Le Caignec, A. David, M. C. de Blois, Valérie Malan, Anne Philippe, Valérie Cormier‐Daire, Laurence Colleaux, E. Flori, Hélène Dollfus, V. Pelletier, Christel Thauvin‐Robinet, A. Masurel-Paulet, L. Faivre, Marc Tardieu, Nadia Bahi‐Buisson, Patrick Callier, Francine Mugneret, Patrick Edery, Philippe Jonveaux, Damien Sanlaville
Vydáno 2010Artigo -
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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features Autor A-M Molin, Joris Andrieux, David A. Koolen, Valérie Malan, Massimo Carella, Laurence Colleaux, Valérie Cormier‐Daire, A. David, Nicole de Leeuw, B Delobel, Bénédicte Duban‐Bedu, Rita Fischetto, Frances Flinter, Søren K. Kjærgaard, Fernando Kok, Ana Cristina Victorino Krepischi, C. Le Caignec, Caroline Mackie Ogilvie, Sofia Maia, M. Mathieu‐Dramard, A Munnich, Orazio Palumbo, Francesco Papadia, Rolph Pfundt, William Reardon, Aline Receveur, Marlène Rio, L Ronsbro Darling, Carla Rosenberg, JAMILE DE OLIVEIRA SÁ, Louis Vallée, C. Vincent‐Delorme, Leopoldo Zelante, M.-L. Bondeson, Göran Annerén
Vydáno 2011Artigo -
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Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III Autor H.‐J. Lüdecke, Jörg Schaper, Peter Meinecke, Parastoo Momeni, Simon Groß, D. von Holtum, H. Hirche, Marc Abramowicz, Beate Albrecht, Can Apacik, H.‐J. Christen, U. Claussen, Koenraad Devriendt, Elisabeth Fastnacht, A. Forderer, U Friedrich, Thj Goodship, M. Greiwe, Henning Hamm, Raoul C. M. Hennekam, Georg Klaus Hinkel, Maria Hoeltzenbein, Hülya Kayserili, F. Majewski, M Mathieu, Ross McLeod, Alina T. Midro, Ute Moog, Toshiro Nagai, Norio Niikawa, Karen Helene Ørstavik, E Plöchl, C. S. Seitz, Jörg Schmidtke, Lisbeth Tranebjærg, Masato Tsukahara, B Wittwer, Bernhard Zabel, Gabriele Gillessen‐Kaesbach, Bernhard Horsthemke
Vydáno 2001Artigo -
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Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management Autor Mayra Mejía, David A. Dyment, Jørn V. Sagen, Judith St‐Onge, Ute Moog, Brian Hon‐Yin Chung, Sophy Mo, Sahar Mansour, A. Albanese, S. Garcia, David Martin, Ainhoa Abad López, Tor Claudi, Rainer König, S.M. White, S.L. Sawyer, J.A. Bernstein, Lauren Slattery, Rebekah Jobling, G. Yoon, Cynthia J. Curry, M. Le Merrer, Bernard Le Luyer, D. Héron, M. Mathieu‐Dramard, Pierre Bitoun, S. Odent, Jeanne Amiel, Paul Kuentz, J. Thevenon, Marie-Alice Laville, Yves Reznik, C. Fagour, M.L. Nunès, D. Delesalle, Sylvie Manouvrier, Olivier Lascols, Frédéric Huet, Christine Binquet, Laurence Faivre, J Rivière, Corinne Vigouroux, Pål R. Njølstad, A. Micheil Innes, Christel Thauvin-Robinet
Vydáno 2015Artigo -
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 Autor Robin Walters, Sébastien Jacquemont, Armand Valsesia, Adam J. de Smith, Danielle Martinet, Johanna C. Andersson‐Assarsson, Mario Falchi, Fei Chen, Joris Andrieux, Stéphane Lobbens, B Delobel, Fanny Stutzmann, Julia S. El-Sayed Moustafa, Jean-Claude Chèvre, Cécile Lecœur, Vincent Vatin, Sonia Bouquillon, Jessica L. Buxton, Odile Boute, Muriel Holder‐Espinasse, Jean‐Marie Cuisset, M. Lemaître, Anne‐Emmanuelle Ambresin, Andrea Brioschi, Muriel Gaillard, Vittorio Giusti, Florence Fellmann, Alessandra Ferrarini, Nouchine Hadjikhani, Dominique Campion, Audrey Guilmatre, Anna Goldenberg, Nadège Calmels, Jean‐Louis Mandel, Cédric Le Caignec, A. David, Bertrand Isidor, Marie‐Pierre Cordier, Sophie Dupuis‐Girod, Audrey Labalme, Damien Sanlaville, Mylène Béri‐Dexheimer, Philippe Jonveaux, Bruno Leheup, Katrin Õunap, Elena G. Bochukova, Elana Henning, Julia M. Keogh, Richard J. Ellis, K D MacDermot, Mieke M. van Haelst, C. Vincent‐Delorme, Ghislaine Plessis, Renaud Touraine, Anne Philippe, Valérie Malan, M. Mathieu‐Dramard, Jean Chiésa, Bettina Blaumeiser, R. Frank Kooy, Robert Caïazzo, Marie Pigeyre, Beverley Balkau, Robert Sladek, Sven Bergmann, Vincent Mooser, Dawn Waterworth, Alexandre Reymond, Péter Vollenweider, Gérard Waeber, Ants Kurg, Priit Palta, Tõnu Esko, Andres Metspalu, Mari Nelis, Paul Elliott, Anna‐Liisa Hartikainen, Mark I. McCarthy, L. Peltonen, Lena Carlsson, Peter Jacobson, Lars Sjöström, Ni Huang, Matthew E. Hurles, Stephen O’Rahilly, I. Sadaf Farooqi, Katrin Männik, Marjo‐Riitta Järvelin, François Pattou, Stephen Eyre, Andrew J. Walley, Lachlan Coin, Alexandra I. F. Blakemore, Philippe Froguel, J. Beckmann
Vydáno 2010Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Medicine
Phenotype
Internal medicine
Endocrinology
Genetic heterogeneity
Biochemistry
Bioinformatics
Cell biology
Chemistry
Chromosome
Copy-number variation
Genome
Genotype
Hypotonia
Immunology
Mesenchymal stem cell
Microdeletion syndrome
Neuroscience
Pediatrics
Receptor
Speech delay
Acanthosis nigricans
Adipose tissue
Adrenal medulla
Anatomy
Anophthalmia
Biophysics