Resultados da pesquisa - Thierry Billette de Villemeur

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  1. 1
    Quality of life in patients with locked-in syndrome: Evolution over a 6-year period

    Quality of life in patients with locked-in syndrome: Evolution over a 6-year period Por Marie‐Christine Rousseau, Karine Baumstarck, Marine Alessandrini, Véronique Blandin, Thierry Billette de Villemeur, Pascal Auquier

    Publicado em 2015
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  2. 2
    A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

    A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments Por Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, J. Serratrice, Roseline Froissart, Catherine Caillaud, Thierry Levade, L. Astudillo, Jacques Serratrice, Anaïs Brassier, Christian Rosé, Thierry Billette de Villemeur, Marc Berger

    Publicado em 2017
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  3. 3
    MFN2, a new gene responsible for mitochondrial DNA depletion

    MFN2, a new gene responsible for mitochondrial DNA depletion Por Florence Renaldo, Patrizia Amati‐Bonneau, Abdelhamid Slama, C. Romaña, V. Forin, Diane Doummar, Christine Barnérias, Joseph Bursztyn, M. Mayer, N. Khouri, Thierry Billette de Villemeur, Lydie Bürglen, Pascal Reynier, A. Gélot, Diana Rodriguez

    Publicado em 2012
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  4. 4
    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient Por Lydie Bürglen, Sandra Chantot‐Bastaraud, Cathérine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leïla Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean‐Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

    Publicado em 2012
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  5. 5
    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome

    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome Por Pascale Saugier‐Veber, Céline Bonnet, Alexandra Afenjar, Valérie Drouin‐Garraud, Christine Coubes, Séverine Fehrenbach, Muriel Holder‐Espinasse, J. Roume, Valérie Malan, Marie‐France Portnoï, Nicolas Jeanne, Clarisse Baumann, Delphine Héron, Albert David, Marion Gérard, Dominique Bonneau, Didier Lacombe, Valérie Cormier‐Daire, Thierry Billette de Villemeur, Thierry Frébourg, Lydie Bürglen

    Publicado em 2007
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  6. 6
    Epilepsy with migrating focal seizures

    Epilepsy with migrating focal seizures Por Giulia Barcia, Nicole Chémaly, Mathieu Kuchenbuch, Monika Eisermann, Stéphanie Gobin‐Limballe, Viorica Ciorna, Alfons Macaya, Laëtitia Lambert, Fanny Dubois, Diane Doummar, Thierry Billette de Villemeur, Nathalie Villeneuve, Marie-Anne Barthez, Caroline Nava, Nathalie Boddaert, Anna Kaminśka, Nadia Bahi‐Buisson, Mathieu Milh, Stéphane Auvin, Jean‐Paul Bonnefont, Rima Nabbout

    Publicado em 2019
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  7. 7
    Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations

    Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations Por Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy J. Maarup, Dean Sarco, Alexandra Afenjar, A.H.M. Mahbubul Huq, Mary K. Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic

    Publicado em 2019
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  8. 8
    KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

    KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP Por Mathieu Kuchenbuch, Giulia Barcia, Nicole Chémaly, Emilie Carme, Agathe Roubertie, Marc Gibaud, Patrick Van Bogaert, Anne de Saint Martin, Édouard Hirsch, Fanny Dubois, Catherine Sarret, Sylvie Nguyen The Tich, Cécile Laroche, Vincent des Portes, Thierry Billette de Villemeur, Marie-Anne Barthez, Stéphane Auvin, Nadia Bahi‐Buisson, Isabelle Desguerre, Anna Kaminśka, Pascal Benquet, Rima Nabbout

    Publicado em 2019
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  9. 9
    Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency

    Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency Por Armanda Casrouge, Shen‐Ying Zhang, Céline Eidenschenk, Emmanuelle Jouanguy, Anne Puel, Kun Yang, Alexandre Alcaïs, Capucine Pïcard, Nora Mahfoufi, Nathalie Nicolas, Lazaro Lorenzo, Sabine Plancoulaine, Brigitte Sénéchal, Frédéric Geissmann, Koichi Tabeta, Kasper Hoebe, Xin Du, Richard L. Miller, Bénédicte Héron, Cyril Mignot, Thierry Billette de Villemeur, Pierre Lebon, Olivier Dulac, Flore Rozenberg, Bruce Beutler, Marc Tardieu, Laurent Abel, Jean‐Laurent Casanova

    Publicado em 2006
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  10. 10
    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic ence... Por Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, Cathérine Garel, Sandra Chantot‐Bastaraud, Élodie Lainey, Alexandra Afenjar, Marie-Anne Barthez, Nathalie Bednarek, Diane Doummar, Laurence Faivre, Cyril Goizet, Damien Haye, Bénédicte Héron, Isabelle Kemlin, Didier Lacombe, Mathieu Milh, Marie‐Laure Moutard, Florence Riant, Stéphanie Robin, Agathe Roubertie, Pierre Sarda, Annick Toutain, Laurent Villard, Dorothée Ville, Thierry Billette de Villemeur, Diana Rodriguez, Lydie Bürglen

    Publicado em 2018
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  11. 11
    Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

    Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 Por Mathieu Milh, Nadia Boutry‐Kryza, Julie Sutera-Sardo, Cyril Mignot, Stéphane Auvin, Caroline Lacoste, Nathalie Villeneuve, Agathe Roubertie, Bénédicte Héron, Maryline Carneiro, Anna Kaminśka, Cécilia Altuzarra, Gaëlle Blanchard, Dorothée Ville, Marie Anne Barthez, Delphine Héron, Domitille Gras, Alexandra Afenjar, Nathalie Dorison, D. Doummar, Thierry Billette de Villemeur, Isabelle An, Aurélia Jacquette, Perrine Charles, Julie Perrier, Bertrand Isidor, Laurent Vercueil, B. Chabrol, Catherine Badens, Gaëtan Lesca, Laurent Villard

    Publicado em 2013
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  12. 12
    <i>DCC</i>mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

    <i>DCC</i>mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome Por Ashley P.L. Marsh, Timothy J. Edwards, Charles A. Galea, Helen Cooper, Elizabeth C. Engle, Saumya Shekhar Jamuar, Aurélie Méneret, Marie‐Laure Moutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy A. Rouleau, Emmanuel Roze, Megan Spencer‐Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A. Walsh, Timothy W. Yu, Delphine Héron, Elliott H. Sherr, Linda J. Richards, Christel Depienne, Richard J. Leventer, Paul J. Lockhart

    Publicado em 2017
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  13. 13
    Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

    Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature Por Claire Bar, Giulia Barcia, Mélanie Jennesson, Gwenaël Le Guyader, Amy L. Schneider, Cyril Mignot, Gaëtan Lesca, Delphine Breuillard, Martino Montomoli, Boris Keren, Diane Doummar, Thierry Billette de Villemeur, Alexandra Afenjar, Isabelle Marey, Marion Gérard, Hervé Isnard, Alice Poisson, S. Dupont, Patrick Berquin, Pierre Meyer, David Geneviève, Anne de Saint Martin, Salima El Chehadeh, Jamel Chelly, Agnès Guët, Emmanuel Scalais, Nathalie Dorison, Candace T. Myers, Heather C. Mefford, Katherine B. Howell, Carla Marini, Jeremy L. Freeman, Anca Nica, Gaetano Terrone, Tayeb Sékhara, Anne-Sophie Lèbre, Sylvie Odent, Lynette G. Sadleir, Arnold Munnich, Renzo Guerrini, Ingrid E. Scheffer, Edor Kabashi, Rima Nabbout

    Publicado em 2019
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  14. 14
    Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

    Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation Por Solveig Heide, Myrtille Spentchian, Stéphanie Valence, Julien Buratti, Corinne Mach, Élodie Lejeune, Valérie Olin, Marta Massimello, Daphné Lehalle, L. Mouthon, Sandra Whalen, Anne Faudet, Cyril Mignot, Cathérine Garel, Éléonore Blondiaux, Mathilde Lefebvre, Geneviève Quenum-Miraillet, Sandra Chantot‐Bastaraud, Mathieu Milh, Florence Bretelle, Vincent des Portes, Laurent Guibaud, Audrey Putoux, V. Tsatsaris, Marta Spodenkiewic, Valérie Layet, Rodolphe Dard, Laurent Mandelbrot, Agnès Guët, Sébastien Moutton, Magali Gorce, Mathilde Nizon, Marie Vincent, Claire Bénéteau, Marie-Amélie Rocchisanni, Alexandra Benachi, Julien Saada, Tania Attié‐Bitach, Lucie Guilbaud, P Maurice, Stéphanie Friszer, Jean‐Marie Jouannic, Thierry Billette de Villemeur, Marie‐Laure Moutard, Boris Keren, Delphine Héron

    Publicado em 2020
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  15. 15
    Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

    Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance Por Ashley P.L. Marsh, Delphine Héron, Timothy J. Edwards, Angélique Quartier, Charles A. Galea, Caroline Nava, Agnès Rastetter, Marie-Laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Cathérine Garel, Greta Gillies, Ilan Gobius, Justine Guégan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukić, Simone Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail Robinson, Megan Spencer‐Smith, Myriam Srour, Sarah Stephenson, Rick M. Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy A. Rouleau, Tania Attié‐Bitach, Martin B. Delatycki, Jean‐Louis Mandel, David J. Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette de Villemeur, Elliott H. Sherr, Richard J. Leventer, Linda J. Richards, Paul J. Lockhart, Christel Depienne

    Publicado em 2017
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  16. 16
    Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

    Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU Por Christel Depienne, Caroline Nava, Boris Keren, Solveig Heide, Agnès Rastetter, Sandrine Passemard, Sandra Chantot‐Bastaraud, Marie‐Laure Moutard, Pankaj B. Agrawal, Grace E. VanNoy, Joan M. Stoler, David J. Amor, Thierry Billette de Villemeur, Diane Doummar, Caroline Alby, Valérie Cormier‐Daire, Cathérine Garel, Pauline Marzin, Sophie Scheidecker, Anne de Saint Martin, Édouard Hirsch, Christian Korff, Armand Bottani, Laurence Faivre, Alain Verloès, Christine Orzechowski, Lydie Bürglen, Bruno Leheup, J. Roume, Joris Andrieux, Frenny Sheth, Chaitanya Datar, Michael Parker, Laurent Pasquier, Sylvie Odent, Sophie Naudion, Marie‐Ange Delrue, Cédric Le Caignec, Marie Vincent, Bertrand Isidor, Florence Renaldo, Fiona Stewart, Annick Toutain, Udo Koehler, Birgit Häckl, Celina von Stülpnagel, Gerhard Kluger, Rikke S. Møller, Deb K. Pal, Tord Jonson, Maria Soller, Nienke E. Verbeek, Mieke M. van Haelst, Carolien G. F. de Kovel, Bobby Koeleman, Glen R. Monroe, Gijs van Haaften, Tania Attié‐Bitach, Lucile Boutaud, Delphine Héron, Cyril Mignot

    Publicado em 2017
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  17. 17
    Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

    Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function Por Gillian Rice, Sehoon Park, Francesco Gavazzi, Laura Adang, Loveline A. Ayuk, Lien Van Eyck, Luís Seabra, Christophe Barrea, Roberta Battini, Alexandre Bélot, Stefan Berg, Thierry Billette de Villemeur, Annette Bley, Lubov Blumkin, Odile Boespflug‐Tanguy, Tracy A. Briggs, Elise Brimble, Russell C. Dale, Niklas Darín, François‐Guillaume Debray, Valentina De Giorgis, Jonas Denecke, Diane Doummar, Gunilla Drake af Hagelsrum, Despina Eleftheriou, Margherita Estienne, Elisa Fazzi, François Feillet, Jessica Galli, Nicholas Hartog, Julie Harvengt, Bénédicte Héron, Delphine Héron, D. Kelly, Dorit Lev, Virginie Levrat, John H. Livingston, Itxaso Martí, Cyril Mignot, Fanny Mochel, Marie‐Christine Nouguès, Ilena Oppermann, Belén Pérez‐Dueñas, Bernt Popp, Mathieu P. Rodero, Diana Rodriguez, Veronica Saletti, C. M. SHARPE, Davide Tonduti, Gayatri Vadlamani, Keith Van Haren, Miguel Tomás Vila, Julie Vogt, Evangeline Wassmer, Arnaud Wiedemann, Callum Wilson, Ayelet Zerem, Christiane Zweier, Sameer M. Zuberi, Simona Orcesi, Adeline Vanderver, Sun Hur, Yanick J. Crow

    Publicado em 2020
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  18. 18
    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

    De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay Por Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld M. Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, D.L. Polla, Dilys Weijers, Amber Begtrup, Kirsty McWalter, Anna Ruiz, Elisabeth Gabau, Jenny E.V. Morton, Christopher Griffith, Karin Weiss, Candace Gamble, James Bartley, Hilary J. Vernon, Kendra Brunet, Claudia Ruivenkamp, Sarina G. Kant, Paul Kruszka, Austin Larson, Alexandra Afenjar, Thierry Billette de Villemeur, Kimberly Nugent, F. Lucy Raymond, Hanka Venselaar, Florence Démurger, Claudia Soler‐Alfonso, Dong Li, Elizabeth Bhoj, Ian Hayes, Nina Powell Hamilton, Ayesha Ahmad, Rachel S. Fisher, Myrthe van den Born, Marjolaine Willems, Arthur Sorlin, Julian Delanne, Sébastien Moutton, Christophe Philippe, Frédéric Tran Mau‐Them, Antonio Vitobello, Himanshu Goel, Lauren Massingham, Chanika Phornphutkul, Jennifer Schwab, Boris Keren, Perrine Charles, Maaike Vreeburg, Lenika De Simone, George Hoganson, Maria Iascone, Donatella Milani, Lucie Evenepoel, Nicole Revençu, Daniel Ward, Kaitlyn Burns, Ian D. Krantz, Sarah E. Raible, Jill R. Murrell, Kathleen H. Wood, Megan T. Cho, Hans van Bokhoven, Maximilian Muenke, Tjitske Kleefstra, Rolf Bodmer, Arjan P.M. de Brouwer

    Publicado em 2020
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  19. 19
    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1<... Por Yanick J. Crow, Diana Chase, Johanna L. Schmidt, Marcin Szynkiewicz, Gabriella Forte, Hannah Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine S. W. Albin, Stavit A. Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul‐Hirji, Eileen Baildam, Nadia Bahi‐Buisson, Kathryn Bailey, Christine Barnérias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward Blair, Miriam Bloom, Alberto Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro‐Gago, Anna Cavallini, Cristina Cereda, Kate Chandler, David Chitayat, Abigail E. Collins, Concepción Sierra Córcoles, Nuno Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D’Arrigo, Christian G E L De Goede, Corinne De Laet, Liesbeth M. H. De Waele, Inés María Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Naz Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, P. Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming Lim, Jean‐Pierre Lin, Tarja Linnankivi, Mark T. Mackay, Daphna Marom, Charles Marques Lourenço, Shane McKee, Isabella Moroni, Jenny E.V. Morton, Marie‐Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemí Núñez‐Enamorado, P.J. Oades, Ivana Olivieri, John R. Østergaard, Belén Pérez‐Dueñas, Julie Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez

    Publicado em 2015
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  20. 20
    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias Por Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr, Ivana A. Souza, Candace T. Myers, Betül Seher Uysal, Niklas Schwarz, María A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina Fagerberg, Kristina P. Soerensen, Maria Kibæk, Erik‐Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, Helenius J. Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-López, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilgüvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Pinto e Vairo, Brendan C. Lanpher, Eric W. Klee, Jan‐Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark Corbett, Alastair H. MacLennan, Jozef Gécz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine M. Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt‐Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle Moufawad El Achkar, Lacey Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis‐Juan, Keren Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B. S. Hedrich, Ingrid E. Scheffer

    Publicado em 2018
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