Torthaí cuardaigh - Marco Fichera

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  1. 1
    Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis

    Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis de réir Lakshmi Pillai‐Kastoori, Wen Wen, Stephen Wilson, Erin Strachan, Adriana Lo‐Castro, Marco Fichera, S Musumeci, Ordan J. Lehmann, Ann C. Morris

    Foilsithe / Cruthaithe 2014
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  2. 2
    The molecular landscape of ASPM mutations in primary microcephaly

    The molecular landscape of ASPM mutations in primary microcephaly de réir Adeline K. Nicholas, Eric A. Swanson, James J. Cox, Gulshan Karbani, Sabreena Malik, Kelly Springell, Daniel J. Hampshire, M Ahmed, Jacquelyn Bond, Daniela Benedetto, Marco Fichera, Corrado Romano, William B. Dobyns, C. Geoffrey Woods

    Foilsithe / Cruthaithe 2008
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  3. 3
    Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

    Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes de réir Santhosh Girirajan, Zoran Brkanac, Bradley P. Coe, Carl Baker, Laura Vives, Tiffany Vu, Neil Shafer, Raphael Bernier, Giovanni Battista Ferrero, Margherita Silengo, Stephen T. Warren, Carlos S. Moreno, Marco Fichera, Corrado Romano, Wendy H. Raskind, Evan E. Eichler

    Foilsithe / Cruthaithe 2011
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  4. 4
    Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

    Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID de réir Bregje W.M. van Bon, Bradley P. Coe, Raphael Bernier, Cherie Green, Jennifer Gerdts, Kali Witherspoon, Tjitske Kleefstra, Marjolein H. Willemsen, Raman Kumar, Paolo Bosco, Marco Fichera, Denglin Li, David G. Amaral, Francesca Cristofoli, Hilde Peeters, E Haan, Corrado Romano, Heather C. Mefford, Ingrid E. Scheffer, Jozef Gécz, Bert B.A. de Vries, Evan E. Eichler

    Foilsithe / Cruthaithe 2015
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  5. 5
    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

    A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP de réir Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Geert Vandeweyer, Liesbeth Rooms, Jenneke van den Ende, Janneke Schuurs-Hoeijmakers, Carlo Marcelis, Marjolein H. Willemsen, Lisenka E.L.M. Vissers, Helger G. Yntema, Madhura Bakshi, Meredith Wilson, Kali Witherspoon, Helena Malmgren, Ann Nordgren, Göran Annerén, Marco Fichera, Paolo Bosco, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, R. Frank Kooy, Evan E. Eichler, Nathalie Van der Aa

    Foilsithe / Cruthaithe 2014
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  6. 6
    Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

    Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females de réir Roberto Giorda, María Clara Bonaglia, Silvana Beri, Marco Fichera, Francesca Novara, Pamela Magini, Jill Urquhart, Freddie H. Sharkey, Claudio Zucca, Rita Grasso, Susan Marelli, Lucia Castiglia, Daniela Benedetto, S Musumeci, Girolamo Aurelio Vitello, Pinella Failla, S Reitano, Emanuela Avola, Francesca Bisulli, Paolo Tinuper, Massimo Mastrangelo, Isabella Fiocchi, Luigina Spaccini, Claudia Torniero, Elena Fontana, Sally Ann Lynch, Jill Clayton‐Smith, Graeme Black, Philippe Jonveaux, Bruno Leheup, Marco Seri, Corrado Romano, Bernardo Dalla Bernardina, Orsetta Zuffardi

    Foilsithe / Cruthaithe 2009
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  7. 7
    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

    The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype de réir Bregje W.M. van Bon, David A. Koolen, Louise Brueton, Dominic McMullan, Klaske D. Lichtenbelt, Lesley C. Adès, Gregory B. Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, F Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan Pm de Brouwer, Joris A. Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, S Reitano, D Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert BA de Vries

    Foilsithe / Cruthaithe 2009
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  8. 8
    A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

    A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures de réir Andrew J. Sharp, Heather C. Mefford, Kelly Li, Carl Baker, Cindy Skinner, Roger E. Stevenson, Richard J. Schroer, Francesca Novara, Manuela De Gregori, Roberto Ciccone, Adam Broomer, Iris Casuga, Yu Wang, Chunlin Xiao, Cátálin Bárbácioru, Giorgio Gimelli, Bernardo Dalla Bernardina, Claudia Torniero, Roberto Giorda, Regina Regan, Victoria Murday, Sahar Mansour, Marco Fichera, Lucia Castiglia, Pinella Failla, Mario Ventura, Zhaoshi Jiang, Gregory M. Cooper, Samantha J.L. Knight, Corrado Romano, Orsetta Zuffardi, Caifu Chen, Charles E. Schwartz, Evan E. Eichler

    Foilsithe / Cruthaithe 2008
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  9. 9
    Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

    Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development de réir Raphael Bernier, Christelle Golzio, Bo Xiong, Holly A.F. Stessman, Bradley P. Coe, Osnat Penn, Kali Witherspoon, Jennifer Gerdts, Carl Baker, Anneke T. Vulto-van Silfhout, Janneke Schuurs-Hoeijmakers, Marco Fichera, Paolo Bosco, Serafino Buono, A Alberti, Pinella Failla, Hilde Peeters, Jean Steyaert, Lisenka E.L.M. Vissers, Ludmila Francescatto, Heather C. Mefford, Jill A. Rosenfeld, Trygve E. Bakken, Brian J. O’Roak, Matthew Pawlus, Randall T. Moon, Jay Shendure, David G. Amaral, Ed S. Lein, Julia Rankin, Corrado Romano, Bert de Vries, Nicholas Katsanis, Evan E. Eichler

    Foilsithe / Cruthaithe 2014
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  10. 10
    Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients

    Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients de réir Manuela De Gregori, Roberto Ciccone, Pamela Magini, Tiziano Pramparo, Stefania Gimelli, Jole Messa, Francesca Novara, Annalisa Vetro, Elena Rossi, P Maraschio, María Clara Bonaglia, Cecilia Anichini, Giovanni Battista Ferrero, Margherita Silengo, Elisa Fazzi, Adriana Zatterale, Rita Fischetto, Carlo Previderé, S. Belli, Alessandra Turci, G Calabrese, Franca Bernardi, Emanuela Meneghelli, Mariluce Riegel, Mariano Rocchi, Silvana Guerneri, Faustina Lalatta, Leopoldo Zelante, Corrado Romano, Marco Fichera, Teresa Mattina, Giulia Arrigo, Marcella Zollino, Sabrina Giglio, Fortunato Lonardo, Aldo Bonfante, Alessandra Ferlini, Francisco Tejada Cifuentes, Hilde Van Esch, Liesbeth Backx, Albert Schinzel, Joris Vermeesch, Orsetta Zuffardi

    Foilsithe / Cruthaithe 2007
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  11. 11
    Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

    Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing de réir Janneke Schuurs-Hoeijmakers, Anneke T. Vulto‐van Silfhout, Lisenka E.L.M. Vissers, Ilse I.G.M. van de Vondervoort, Bregje W.M. van Bon, Joep de Ligt, Christian Gilissen, Jayne Y. Hehir‐Kwa, Kornelia Neveling, Marisol del Rosario, Gausiya Hira, S Reitano, Girolamo Aurelio Vitello, Pinella Failla, Donatella Greco, Marco Fichera, Ornella Galesi, Tjitske Kleefstra, Marie T. Greally, Charlotte W. Ockeloen, Marjolein H. Willemsen, Ernie M.H.F. Bongers, Irene M. Janssen, Rolph Pfundt, Joris A. Veltman, Corrado Romano, Michèl A.A.P. Willemsen, Hans van Bokhoven, Han G. Brunner, Bert B.A. de Vries, Arjan P.M. de Brouwer

    Foilsithe / Cruthaithe 2013
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  12. 12
    Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

    Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder de réir Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, Bregje W.M. van Bon, Yiping Shen, Elena Repnikova, Julie M. Gastier‐Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M. Ruderfer, Colby Chiang, Carrie Hanscom, Carl Ernst, Amelia M. Lindgren, Cynthia C. Morton, Yu An, Caroline Astbury, Louise Brueton, Klaske D. Lichtenbelt, Lesley C. Adès, Marco Fichera, Corrado Romano, Jeffrey W. Innis, Charles A. Williams, Dennis Bartholomew, Margot I. Van Allen, Aditi Shah Parikh, Lilei Zhang, Bai-Lin Wu, Robert E. Pyatt, Stuart Schwartz, Lisa G. Shaffer, Bert B.A. de Vries, James F. Gusella, Sarah H. Elsea

    Foilsithe / Cruthaithe 2011
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  13. 13
    Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Refining analyses of copy number variation identifies specific genes associated with developmental delay de réir Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld, Bregje W.M. van Bon, Anneke T. Vulto‐van Silfhout, Paolo Bosco, Kathryn Friend, Carl Baker, Serafino Buono, Lisenka E.L.M. Vissers, Janneke Schuurs-Hoeijmakers, Alexander Hoischen, Rolph Pfundt, Nik Krumm, Gemma L. Carvill, Deana Li, David G. Amaral, Natasha J. Brown, Paul J. Lockhart, Ingrid E. Scheffer, A Alberti, Marie Shaw, Rosa Pettinato, Raymond C. Tervo, Nicole de Leeuw, Margot R.F. Reijnders, Beth S. Torchia, Hilde Peeters, Brian J. O’Roak, Marco Fichera, Jayne Y. Hehir‐Kwa, Jay Shendure, Heather C. Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler

    Foilsithe / Cruthaithe 2014
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  14. 14
    15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

    15q13.3 microdeletions increase risk of idiopathic generalized epilepsy de réir Katherine L. Helbig, Heather C. Mefford, Andrew J. Sharp, Michel Guipponi, Marco Fichera, André Franke, Hiltrud Muhle, Carolien G. F. de Kovel, Carl Baker, Sarah von Spiczak, Katherine L. Kron, Ines Steinich, Ailing A. Kleefuß‐Lie, Costin Leu, Verena Gaus, Bettina Schmitz, Karl Martin Klein, Philipp S. Reif, Felix Rosenow, Yvonne G. Weber, Holger Lerche, Fritz Zimprich, L Urak, Karoline Fuchs, Martha Feucht, Pierre Genton, Pierre Thomas, Frank Visscher, Gerrit‐Jan de Haan, Rikke S. Møller, Helle Hjalgrim, D Luciano, Michael Wittig, Michael Nothnagel, Christian E. Elger, Peter Nürnberg, Corrado Romano, Alain Malafosse, Bobby P.C. Koeleman, Dick Lindhout, Ulrich Stephani, Stefan Schreiber, Evan E. Eichler, Thomas Sander

    Foilsithe / Cruthaithe 2009
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  15. 15
    The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes de réir Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant, Karen W. Gripp, Carol E. Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, M. Falco, Christina Fels, Marco Fichera, Jesper Graakjær, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene J. Huggins, Roger L. Ladda, Chumei Li, John B. Moeschler, Małgorzata J.M. Nowaczyk, Jillian R. Ozmore, S Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan L. Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark A. Tarnopolsky, Raymond C. Tervo, Anne Chun‐Hui Tsai, Megan Tucker, Stephanie E. Vallee, Ferrin C. Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer, William B. Dobyns

    Foilsithe / Cruthaithe 2013
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  16. 16
    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome de réir María Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Maria de Souza‐Motta, Massimo Molteni, Corrado Romano, Donatella Greco, S Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D’Arrigo, Daria Riva, Francesca L. Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frédérique Béna, Alfredo Brusco, Eleonora Di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, María Luisa Martínez‐Frías, M.L. Martínez‐Fernández, N. Martínez Guardia, Anna Bremer, Britt‐Marie Anderlid, Orsetta Zuffardi

    Foilsithe / Cruthaithe 2011
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  17. 17
    Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

    Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants de réir Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Männik, Arjun Krishnan, M. Elizabeth McCready, Olivier Pichon, Cédric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Currò, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin–Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bućan, Susan Zeesman, Małgorzata J.M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Perrine Charles, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles E. Schwartz, Corrado Romano, Erik A. Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan

    Foilsithe / Cruthaithe 2018
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  18. 18
    Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

    Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome de réir Bregje W.M. van Bon, Heather C. Mefford, Björn Menten, David A. Koolen, Andrew J. Sharp, Willy M. Nillesen, Jeffrey W. Innis, Thomy de Ravel, Catherine L. Mercer, Marco Fichera, Helen Stewart, Louise Connell, Katrin Õunap, Katherine Lachlan, B. Castle, Nathalie Van der Aa, Conny van Ravenswaaij, Marcelo A. Nóbrega, Clara Serra‐Juhé, Ingrid Simonic, Nicole de Leeuw, Rolph Pfundt, Ernie M.H.F. Bongers, Carl Baker, P Finnemore, Shuwen Huang, V. Maloney, John A. Crolla, M van Kalmthout, Maurizio Elia, Geert Vandeweyer, J. P. Fryns, Sandra Janssens, Nicola Foulds, S Reitano, Kath Smith, Sven Parkel, Bart Loeys, C. Geoffrey Woods, Anna Oostra, Frank Speleman, Alexandre C. Pereira, Ants Kurg, Lionel Willatt, Samantha J.L. Knight, Joris Vermeesch, Corrado Romano, John Barber, Geert Mortier, Luis Alberto Pérez‐Jurado, R. Frank Kooy, Han G. Brunner, Evan E. Eichler, Tjitske Kleefstra, Bert B.A. de Vries

    Foilsithe / Cruthaithe 2009
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  19. 19
    A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay de réir Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane McCarthy, Carl Baker, Heather C. Mefford, Jeffrey M. Kidd, Sharon R. Browning, Brian L. Browning, Diane E. Dickel, Deborah L. Levy, Blake C. Ballif, Kathryn Platky, Darren Farber, Gordon C. Gowans, Jessica J Wetherbee, Alexander Asamoah, David D. Weaver, Paul R. Mark, Jennifer A. Dickerson, Bhuwan P. Garg, Sara Ellingwood, Rosemarie Smith, Valerie Banks, Wendy E. Smith, Marie McDonald, Joe J. Hoo, Beatrice N. French, Cindy Hudson, John P. Johnson, Jillian R. Ozmore, John B. Moeschler, Urvashi Surti, Luis Escobar, Dima El‐Khechen, Jerome L. Gorski, Jennifer Kussmann, Bonnie Anne Salbert, Yves Lacassie, Alisha Biser, Donna M. McDonald‐McGinn, Elaine H. Zackai, Matthew A. Deardorff, Tamim H. Shaikh, Eric Haan, Kathryn Friend, Marco Fichera, Corrado Romano, Jozef Gécz, Lynn E. DeLisi, Jonathan Sebat, Mary‐Claire King, Lisa G. Shaffer, Evan E. Eichler

    Foilsithe / Cruthaithe 2010
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  20. 20
    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

    Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes de réir Heather C. Mefford, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koenraad Devriendt, Ernie M.H.F. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frédérique Béna, Raoul C. M. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton‐Smith, Ingrid Simonic, Soo Mi Park, Sarju Mehta, Serena Nik‐Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, S Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John Tolmie, Edward S. Tobias, Chris J. Lilley, Lluı́s Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary‐Claire King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J.L. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B.A. de Vries, Joris Vermeesch, John Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler

    Foilsithe / Cruthaithe 2008
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