Ohcanbohtosat - Aurélia Jacquette
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Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1 Dahkki Marie Douniol, Aurélia Jacquette, David Cohen, Nicolas Bodeau, Linda Rachidi, Nathalie Angeard, Jean‐Marie Cuisset, Louis Vallée, B. Eymard, Monique Plaza, Delphine Héron, Jean-Marc Guilé
Almmustuhtton 2012Revisão -
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Recurrent mutations in the <i>CDKL5</i> gene: Genotype–phenotype relationships Dahkki Nadia Bahi‐Buisson, Nathalie Villeneuve, Emilie Caietta, Aurélia Jacquette, Hélène Maurey, Gert Matthijs, Hilde Van Esch, Andrée Delahaye‐Duriez, Anne Moncla, Mathieu Milh, Flore Zufferey, Bertrand Diebold, Thierry Bienvenu
Almmustuhtton 2012Artigo -
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STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients Dahkki Cyril Mignot, Marie‐Laure Moutard, Oriane Trouillard, Isabelle Gourfinkel‐An, Aurélia Jacquette, Benoı̂t Arveiler, Fanny Morice‐Picard, Didier Lacombe, Catherine Chiron, Dorothée Ville, Perrine Charles, Eric Leguern, Christel Depienne, Delphine Héron
Almmustuhtton 2011Artigo -
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Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders Dahkki Caroline Nava, Boris Keren, Cyril Mignot, Agnès Rastetter, Sandra Chantot‐Bastaraud, Anne Faudet, Eric Fonteneau, Claire Amiet, Claudine Laurent, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Diane Doummar, Nathalie Dorison, Marion Leboyer, Jean‐Pierre Siffroi, David Cohen, Alexis Brice, Delphine Héron, Christel Depienne
Almmustuhtton 2013Artigo -
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29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype Dahkki Marie‐Lorraine Monin, Cyril Mignot, Pascale de Lonlay, Bénédicte Héron, Alice Masurel, Michèle Mathieu‐Dramard, C Lenaerts, Christel Thauvin, Marion Gérard, Emmanuel Roze, Aurélia Jacquette, Perrine Charles, Claire De Barace, Valérie Drouin‐Garraud, Philippe Khau Van Kien, Valérie Cormier‐Daire, M. Mayer, Hélène Ogier, Alexis Brice, Nathalie Seta, Delphine Héron
Almmustuhtton 2014Artigo -
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Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE Dahkki Caroline Nava, Foudil Lamari, Delphine Héron, Cyril Mignot, Agnès Rastetter, Boris Keren, David Cohen, Anne Faudet, Delphine Bouteiller, Martine Gilleron, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Claudine Laurent, Céline Dupuits, Cécile Gautier, Marion Gérard, Guillaume Huguet, S Caillet, Bruno Leheup, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron, Alexis Brice, Christel Depienne
Almmustuhtton 2012Artigo -
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Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients Dahkki Elouan Chérot, Boris Keren, Christèle Dubourg, Wilfried Carré, Mélanie Fradin, Alinoë Lavillaureix, Alexandra Afenjar, Lydie Bürglen, Sandra Whalen, Perrine Charles, Isabelle Marey, Solveig Heide, Aurélia Jacquette, Delphine Héron, Diane Doummar, Diana Rodriguez, T Billette de Villemeur, M.L. Moutard, Agnès Guët, Jean Xavier, Didier Périsse, David Cohen, Florence Démurger, Chloé Quēlin, Christel Depienne, Sylvie Odent, Caroline Nava, Véronique David, Laurent Pasquier, Cyril Mignot
Almmustuhtton 2017Artigo -
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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2 Dahkki 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
Almmustuhtton 2013Artigo -
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De novo mutations of<i>KIAA2022</i>in females cause intellectual disability and intractable epilepsy Dahkki Iris Lange, Katherine L. Helbig, Sarah Weckhuysen, Rikke S. Møller, Milen Velinov, Natalia Dolzhanskaya, Eric D. Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T. Myers, Wim Van Paesschen, Pasquale Striano, Koen L.I. van Gassen, Marjan van Kempen, Carolien G. F. de Kovel, Juliette Piard, Berge A. Minassian, Marjan M. Nezarati, André Luiz Santos Pessoa, Aurélia Jacquette, Bridget H. Maher, Simona Balestrini, Sanjay M. Sisodiya, Marie Thérèse Abi Warde, Anne de Saint Martin, Jamel Chelly, Ruben van ‘t Slot, Lionel Van Maldergem, Eva H. Brilstra, Bobby P. C. Koeleman
Almmustuhtton 2016Artigo -
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Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2 Dahkki Erik Boot, Nancy J. Butcher, Sean Udow, Connie Marras, Kin Y. Mok, Satoshi Kaneko, Matthew J. Barrett, Paolo Prontera, Brian D. Berman, Mario Masellis, Boris Dufournet, Karine Nguyen, Perrine Charles, Eugénie Mutez, Téodor Danaila, Aurélia Jacquette, Olivier Colin, Sophie Drapier, Michel Borg, Ania Fiksinski, Elfi Vergaelen, Ann Swillen, Annick Vogels, Annika Plate, Claudia Perandones, Thomas Gasser, Kristien Clerinx, Frédéric Bourdain, K.R. Mills, Nigel Williams, Nicholas Wood, Jan Booij, Anthony E. Lang, Anne S. Bassett, Nicola Tambasco, Gabriela M. Repetto, Rosemarie Fritsch, Barber M Tinselboer, Jacob Vorstman, Luis A. Pellene, Stephen G. Reich, Claudia Schulte, A. Dekker
Almmustuhtton 2018Artigo -
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome Dahkki Marine Legendre, Véronique Abadie, Tania Attié‐Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain, Sophie Blesson, Sophie Julia, Dominique Martin–Coignard, David Geneviève, Bruno Leheup, Sylvie Odent, Pierre‐Simon Jouk, Sandra Mercier, Laurence Faivre, Catherine Vincent‐Delorme, Christine Francannet, Sophie Naudion, Michèle Mathieu‐Dramard, Marie‐Ange Delrue, Alice Goldenberg, Delphine Héron, Philippe Parent, Renaud Touraine, Valérie Layet, Damien Sanlaville, Chloé Quēlin, Sébastien Moutton, Mélanie Fradin, Aurélia Jacquette, Sabine Sigaudy, Lucile Pinson, Pierre Sarda, Anne‐Marie Guerrot, Massimiliano Rossi, Alice Masurel‐Paulet, Salima El Chehadeh, Xavier Piguel, Montserrat Rodriguez‐Ballesteros, Stéphanie Ragot, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert‐Dussardier
Almmustuhtton 2017Artigo -
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders Dahkki Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková, Osnat Penn, Alexander Hoischen, Bo Xiong, Tianyun Wang, Kendra Hoekzema, Laura Vives, Ida Vogel, Han G. Brunner, Ineke van der Burgt, Charlotte W. Ockeloen, Janneke Schuurs-Hoeijmakers, Jolien S. Klein Wassink‐Ruiter, Connie T. R. M. Stumpel, Servi J.C. Stevens, Hans S.H. Vles, Carlo Marcelis, Hans van Bokhoven, Vincent Cantagrel, Laurence Colleaux, Michaël Nicouleau, Stanislas Lyonnet, Raphael A. Bernier, Jennifer Gerdts, Bradley P. Coe, Corrado Romano, A Alberti, Lucia Grillo, Carmela Scuderi, Magnus Nordenskjöld, Malin Kvarnung, Hui Guo, Kun Xia, Amélie Piton, Bénédicte Gérard, David Geneviève, Bruno Delobel, Daphné Lehalle, Laurence Perrin, Fabienne Prieur, Julien Thévenon, Jozef Gécz, Marie Shaw, Rolph Pfundt, Boris Keren, Aurélia Jacquette, Annette Schenck, Evan E. Eichler, Tjitske Kleefstra
Almmustuhtton 2016Artigo -
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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments Dahkki Claire S. Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kévin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M. Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Råstam, I. Carina Gillberg, Gudrun Rappold, Richard Holt, Anthony P. Monaco, Elena Maestrini, Pilar Galán, Delphine Héron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiésa, François Rivier, Dominique Bonneau, Béatrice Regnault, Diana Zélénika, Marc Delépine, Mark Lathrop, Damien Sanlaville, Caroline Schluth–Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J. Schmeißer, Tobias M. Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W. Scherer, Guy A. Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron
Almmustuhtton 2014Revisão -
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome Dahkki Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloès, Séverine Drunat, Boris Keren, Cyril Mignot, Isabelle Marey, Aurélia Jacquette, Sandra Whalen, Eva Pipiras, Brigitte Benzacken, Sandra Chantot‐Bastaraud, Alexandra Afenjar, Delphine Héron, Cédric Le Caignec, Claire Bénéteau, Olivier Pichon, Bertrand Isidor, Albert David, Laïla El Khattabi, Stéphan Kemeny, Laëtitia Gouas, Philippe Vago, Anne‐Laure Mosca‐Boidron, Laurence Faivre, Chantal Missirian, Nicole Philip, Damien Sanlaville, Patrick Edery, Véronique Satre, Charles Coutton, Françoise Devillard, Klaus Dieterich, Marie‐Laure Vuillaume, Caroline Rooryck, Didier Lacombe, Lucile Pinson, Vincent Gâtinois, Jacques Puechberty, Jean Chiésa, James Lespinasse, Christèle Dubourg, Chloé Quēlin, Mélanie Fradin, Hubert Journel, Annick Toutain, Dominique Martin, Abdelamdjid Benmansour, Claire S. Leblond, Roberto Toro, Frédérique Amsellem, Richard Delorme, Thomas Bourgeron
Almmustuhtton 2017Artigo -
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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities Dahkki Debra D’Angelo, Sébastien Lebon, Qixuan Chen, Sandra Martin-Brevet, LeeAnne Green Snyder, Loyse Hippolyte, Ellen Hanson, Anne Maillard, W. Andrew Faucett, Aurélien Mace, Aurélie Pain, Raphael Bernier, Samuel J. R. A. Chawner, Albert David, Joris Andrieux, Elizabeth Aylward, Geneviève Baujat, Inês Caldeira, Philippe Conus, Carrina Ferrari, Francesca Forzano, Marion Gérard, Robin P. Goin‐Kochel, P. Ellen Grant, Jill V. Hunter, Bertrand Isidor, Aurélia Jacquette, Aia Elise Jønch, Boris Keren, Didier Lacombe, Cédric Le Caignec, Alastair J. Martin, Katrin Männik, Andres Metspalu, Cyril Mignot, Pratik Mukherjee, Michael J. Owen, Marzia Passeggeri, Caroline Rooryck, Jill A. Rosenfeld, Sarah Spence, Kyle J. Steinman, Jennifer Tjernagel, Mieke M. van Haelst, Yiping Shen, Bogdan Draganski, Elliott H. Sherr, David H. Ledbetter, Marianne B. M. van den Bree, J. Beckmann, John E. Spiro, Alexandre Reymond, Sébastien Jacquemont, Wendy K. Chung
Almmustuhtton 2015Artigo -
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy Dahkki Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Élise Schaefer, Hatice Karasoy, Melissa A Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S. Greenleaf, Melissa A. Barger, Lane J. Mahoney, Peter B. Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz‐Laguna, Carina Wallgren‐Pettersson, James J. Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary Sousa Bulle Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, A. Furby, José Eulalio Bárcena, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin‐Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine D. Mathews, Lori A.H. Erby, Stephen A. Smith, Jennifer Roggenbuck, Carol A. Crowe, Allison Brennan Spitale, Sheila C. Johal, Anthony A. Amato, Laurie Demmer, Jessica Jonas, Basil T. Darras, Thomas D. Bird, Mercy Laurino, Selman I. Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean‐Louis Mandel, Alan H. Beggs, Jocelyn Laporte
Almmustuhtton 2012Artigo -
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Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study Dahkki Sandra Martin-Brevet, Borja Rodríguez‐Herreros, Jared A. Nielsen, Clara Moreau, Claudia Modenato, Anne Maillard, Aurélie Pain, Sonia Richetin, Aia Elise Jønch, Abid Qureshi, Nicole R. Zürcher, Philippe Conus, Wendy K. Chung, Elliott H. Sherr, John E. Spiro, Ferath Kherif, J. Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L. Buckner, Bogdan Draganski, Sébastien Jacquemont, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean‐Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban
Almmustuhtton 2018Artigo -
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Effects of eight neuropsychiatric copy number variants on human brain structure Dahkki Claudia Modenato, Kuldeep Kumar, Clara Moreau, Sandra Martin‐Brevet, Guillaume Huguet, Catherine Schramm, Martineau Jean‐Louis, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Élise Douard, Fanny Thébault‐Dagher, Valérie Côté, Audrey-Rose Charlebois, Florence Deguire, Anne Maillard, Borja Rodríguez‐Herreros, Aurélie Pain, Sonia Richetin, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean- Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Alexandre Raymond, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban, Yi-Shin Chang, Maxwell Cheong
Almmustuhtton 2021Artigo -
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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP Dahkki Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns, Ilse M. van der Werf, Grazia M.S. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld, Marije Meuwissen, Geert Vandeweyer, R. Frank Kooy, Madhura Bakshi, Meredith Wilson, Yemina Berman, Rebecca Dickson, Erik Fransén, Céline Helsmoortel, Jenneke van den Ende, Nathalie Van der Aa, Marina J. van de Wijdeven, Jessica Rosenblum, Fabíola Paoli Monteiro, Fernando Kok, Nada Quercia, Sarah Bowdin, David A. Dyment, David Chitayat, Ebba Alkhunaizi, Susanne E. Boonen, Boris Keren, Aurélia Jacquette, Laurence Faivre, Stéphane Bézieau, Bertrand Isidor, Angelika Rieß, Ute Moog, Sally Ann Lynch, Terri McVeigh, Orly Elpeleg, Marie Falkenberg Smeland, Madeleine Fannemel, Arie van Haeringen, Saskia M. Maas, Hermine E. Veenstra‐Knol, Meyke Schouten, Marjolein H. Willemsen, Carlo Marcelis, Charlotte W. Ockeloen, Ineke van der Burgt, Ilse Feenstra, Jasper van der Smagt, Aleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Domingo González‐Lamuño, Britt‐Marie Anderlid, Helena Malmgren, Magnus Nordenskjöld, Emma Clement, Jane A. Hurst, Kay Metcalfe, Sahar Mansour, Katherine Lachlan, Jill Clayton‐Smith, Laura G. Hendon, Omar Abdul‐Rahman, Eric M. Morrow, Clare McMillan, Jennifer Gerdts, Joseph Peeden, Samantha A. Schrier Vergano, Caitlin Valentino, Wendy K. Chung, Jillian R. Ozmore, Sandra Bedrosian‐Sermone, Anna Dennis, Kayla Treat, Susan Hughes, Nicole P. Safina, Jean‐Baptiste Le Pichon, Marianne McGuire, Elena Infante, Suneeta Madan‐Khetarpal, Sonal Desai, Paul J. Benke, Alyson Krokosky, Ingrid Cristian, Laura Baker, Karen W. Gripp, Holly A.F. Stessman, Jacob A. Eichenberger, Parul Jayakar
Almmustuhtton 2018Artigo
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