نتائج البحث - Sean Ennis

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  1. 1
    Genetic Associations with Aging Muscle: A Systematic Review

    Genetic Associations with Aging Muscle: A Systematic Review حسب Jedd Pratt, Colin Boreham, Sean Ennis, Anthony W. Ryan, Giuseppe De Vito

    منشور في 2019
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    Revisão
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  2. 2
    Recessive mutations in<i>MCM4</i>/<i>PRKDC</i>cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair

    Recessive mutations in<i>MCM4</i>/<i>PRKDC</i>cause a novel syndrome involving a primary immunodeficiency and a disorder of DNA repair حسب Jillian P. Casey, Michael C. Nobbs, Paul McGettigan, Sally Ann Lynch, Sean Ennis

    منشور في 2012
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    Artigo
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  3. 3
    NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment

    NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment حسب Jillian P. Casey, Svein I. Støve, Catherine McGorrian, Joseph Galvin, Marina Blenski, Aimee Dunne, Sean Ennis, Francesca Brett, Mary D. King, Thomas Arnesen, Sally Ann Lynch

    منشور في 2015
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    Artigo
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  4. 4
    Identification of a mutation in LARS as a novel cause of infantile hepatopathy

    Identification of a mutation in LARS as a novel cause of infantile hepatopathy حسب Jillian P. Casey, Paul McGettigan, Niamh Lynam‐Lennon, Michael McDermott, Regina Regan, Judith Conroy, Billy Bourke, Jacintha O' Sullivan, Ellen Crushell, Sally Ann Lynch, Sean Ennis

    منشور في 2012
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    Artigo
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  5. 5
    Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

    Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion حسب Nicholas M. Allen, Judith Conroy, Amre Shahwan, Bryan Lynch, Raony G. Correa, Sérgio D.J. Pena, Dara McCreary, Tiago R. Magalhães, Sean Ennis, Sally Ann Lynch, Mary D. King

    منشور في 2015
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    Artigo
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  6. 6
    A novel locus for episodic ataxia:UBR4 the likely candidate

    A novel locus for episodic ataxia:UBR4 the likely candidate حسب Judith Conroy, Paul McGettigan, Raymond P. Murphy, David Webb, Sinéad M. Murphy, Bláthnaid McCoy, Christine Albertyn, Dara McCreary, C. L. McDonagh, Órla Walsh, Sally Ann Lynch, Sean Ennis

    منشور في 2013
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    Artigo
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  7. 7
    Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

    Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders حسب Elaine Kenny, Paul Cormican, Sarah Furlong, Elizabeth A. Heron, G. N. C. Kenny, Ciara Fahey, Eric Kelleher, Sean Ennis, Daniela Tropea, Richard Anney, Aiden Corvin, Gary Donohoe, Louise Gallagher, Michael Gill, Derek W. Morris

    منشور في 2013
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  8. 8
    Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects

    Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects حسب Jillian P. Casey, Kieran Brennan, Noémie Scheidel, Paul McGettigan, Paul TM Lavin, Stephen P. Carter, Sean Ennis, Huw Dorkins, Neeti Ghali, Oliver E. Blacque, Margaret M. Mc Gee, Helen Murphy, Sally Ann Lynch

    منشور في 2016
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    Artigo
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  9. 9
    Increased BDNF levels and <i>NTRK2</i> gene association suggest a disruption of BDNF/TrkB signaling in autism

    Increased BDNF levels and <i>NTRK2</i> gene association suggest a disruption of BDNF/TrkB signaling in autism حسب Catarina Correia, Ana Coutinho, Ana Filipa Sequeira, Inês Sousa, Lara Lourenço Venda, J.-P. de Almeida, R. L. Abreu, Camila C Lobo, Teresa S. Miguel, Jeffrey M. Conroy, Lynne Cochrane, Louise Gallagher, Michael Gill, Sean Ennis, G. G. Oliveira, Astrid M. Vicente

    منشور في 2010
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    Artigo
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  10. 10
    First implication of<i>STRA6</i>mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the<i>STRA6</i>phenotype

    First implication of<i>STRA6</i>mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the<i>STRA6</i>phenotype حسب Jillian P. Casey, Riki Kawaguchi, Maria E. Morrissey, Hui Sun, Paul McGettigan, Jens Erik Nielsen, Judith Conroy, Regina Regan, Elaine Kenny, Paul Cormican, Derek W. Morris, Peter Tormey, Muireann Ní Chróinín, Breandán N. Kennedy, Sally Ann Lynch, Andrew Green, Sean Ennis

    منشور في 2011
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    Artigo
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  11. 11
    TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

    TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function حسب Fernando Gómez-Herreros, Janneke Schuurs-Hoeijmakers, Mark McCormack, Marie T. Greally, Stuart L. Rulten, Rocío Romero‐Granados, Timothy J. Counihan, Elijah Chaila, Judith Conroy, Sean Ennis, Norman Delanty, Felipe Cortés‐Ledesma, Arjan P.M. de Brouwer, Gianpiero L. Cavalleri, Sherif F. El‐Khamisy, Bert B.A. de Vries, Keith W. Caldecott

    منشور في 2014
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    Artigo
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  12. 12
    Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells

    Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells حسب Sahar Avazzadeh, Katya McDonagh, Jamie Reilly, Yanqin Wang, Stephanie D. Boomkamp, Veronica McInerney, Janusz Krawczyk, Jacqueline Fitzgerald, Niamh Feerick, Matthew L. O’Sullivan, Amirhossein Jalali, Eva Forman, Sally Ann Lynch, Sean Ennis, Nele Cosemans, Hilde Peeters, Peter Dockery, Timothy O’Brien, Leo R. Quinlan, Louise Gallagher, Sanbing Shen

    منشور في 2019
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    Artigo
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  13. 13
    Geospatial Resolution of Human and Bacterial Diversity with City-Scale Metagenomics

    Geospatial Resolution of Human and Bacterial Diversity with City-Scale Metagenomics حسب Ebrahim Afshinnekoo, Cem Meydan, Shanin Chowdhury, Dyala Jaroudi, Collin Boyer, Nick Bernstein, Julia M. Maritz, Darryl Reeves, Jorge Gandara, Sagar Chhangawala, Sofia Ahsanuddin, Amber Simmons, Timothy Nessel, Bharathi Sundaresh, Elizabeth Pereira, Ellen Jorgensen, Sergios‐Orestis Kolokotronis, Nell Kirchberger, Isaac Garcia, David R. Gandara, Sean Dhanraj, Tanzina Nawrin, Yogesh Saletore, Noah Alexander, Priyanka Vijay, Elizabeth Hénaff, Paul Zumbo, Michael Walsh, G. D. O’Mullan, Scott Tighe, Joel T. Dudley, Anya Dunaif, Sean Ennis, Eoghan O’Halloran, Tiago R. Magalhães, Braden Boone, Angela Jones, Theodore R. Muth, Katie Schneider Paolantonio, Elizabeth Alter, Eric E. Schadt, Jeanne Garbarino, Robert J. Prill, Jane M. Carlton, Shawn Levy, Christopher E. Mason

    منشور في 2015
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    Artigo
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  14. 14
    Geospatial Resolution of Human and Bacterial Diversity with City-Scale Metagenomics

    Geospatial Resolution of Human and Bacterial Diversity with City-Scale Metagenomics حسب Ebrahim Afshinnekoo, Cem Meydan, Shanin Chowdhury, Dyala Jaroudi, Collin Boyer, Nick Bernstein, Julia M. Maritz, Darryl Reeves, Jorge Gandara, Sagar Chhangawala, Sofia Ahsanuddin, Amber Simmons, Timothy Nessel, Bharathi Sundaresh, Elizabeth Pereira, Ellen Jorgensen, Sergios‐Orestis Kolokotronis, Nell Kirchberger, Isaac Garcia, David R. Gandara, Sean Dhanraj, Tanzina Nawrin, Yogesh Saletore, Noah Alexander, Priyanka Vijay, Elizabeth Hénaff, Paul Zumbo, Michael Walsh, G. D. O’Mullan, Scott Tighe, Joel T. Dudley, Anya Dunaif, Sean Ennis, Eoghan O’Halloran, Tiago R. Magalhães, Braden Boone, Angela Jones, Theodore R. Muth, Katie Schneider Paolantonio, Elizabeth Alter, Eric E. Schadt, Jeanne Garbarino, Robert J. Prill, Jane M. Carlton, Shawn Levy, Christopher E. Mason

    منشور في 2015
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    Errata/Corrigenda
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  15. 15
    The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

    The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism حسب Dexter Hadley, Zhi-liang Wu, Charlly Kao, Akshata Kini, Alisha Mohamed-Hadley, Kelly Thomas, Lyam Vazquez, Haijun Qiu, Frank Mentch, Renata Pellegrino, Cecilia Kim, John J. Connolly, Dalila Pinto, Alison Merikangas, Lambertus Klei, Jacob Vorstman, Ann Thompson, Regina Regan, Alistair T. Pagnamenta, Bárbara Oliveira, Tiago R. Magalhães, John R. Gilbert, Eftichia Duketis, Maretha Jonge, Michael L. Cuccaro, Catarina Correia, Judith Conroy, Inês C. Conceição, Andreas G. Chiocchetti, Jillian P. Casey, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Simon Wallace, Hermán van Engeland, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy J. Minshew, Susan G. McGrew, Catherine Lord, Marion Leboyer, Ann S. Couteur, Alexander Kolevzon, Suma Jacob, Stephen J. Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget A. Fernandez, Frederico Duque, Richard Delorme, Géraldine Dawson, Cátia Café, S. Brennan, Thomas Bourgeron, Patrick Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony Bailey, Evdokia Anagnostou, Joana Almeida, Ellen M. Wijsman, Veronica J. Vieland, Astrid M. Vicente, Gerard D. Schellenberg, Margaret A. Pericak‐Vance, Andrew D. Paterson, Jeremy Parr, Guiomar Oliveira, Joana Almeida, Cátia Café, Susana Mouga, Catarina Correia, John I. Nürnberger, Anthony P. Monaco, Elena Maestrini, Sabine M. Klauck, Hákon Hákonarson, Jonathan L. Haines, Daniel H. Geschwind, Christine M. Freitag, Susan E. Folstein, Sean Ennis, Hilary Coon, Agatino Battaglia, Peter Szatmari, James S. Sutcliffe, Joachim Hallmayer, Michael Gill, Edwin H. Cook, Joseph D. Buxbaum, Bernie Devlin, Louise Gallagher, Catalina Betancur

    منشور في 2014
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    Artigo
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  16. 16
    Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

    Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs حسب Sang Lee, Stephan Ripke, Benjamin M. Neale, Stephen V. Faraone, Shaun Purcell, Roy H. Perlis, Bryan Mowry, Anita Thapar, Michael E. Goddard, Esther M. John, Devin Absher, Ingrid Agartz, Huda Akil, Farooq Amin, Ole A. Andreassen, Adebayo Anjorin, Richard Anney, Verneri Anttila, Dan E. Arking, Philip Asherson, Maria Helena Pinto de Azevedo, Lena Backlund, Judith A. Badner, Anthony Bailey, Tobias Banaschewski, Jack D. Barchas, Michael R. Barnes, Thomas B. Barrett, Nicholas Bass, Agatino Battaglia, Michael J. Bauer, Mónica Bayés, Frank Bellivier, Sarah E. Bergen, Wade H. Berrettini, Catalina Betancur, Thomas Bettecken, Joseph Biederman, Elisabeth B. Binder, Donald W. Black, Douglas Blackwood, Cinnamon S. Bloss, Michael Boehnke, Dorret I. Boomsma, Gerome Breen, René Breuer, Richard Bruggeman, Paul Cormican, Nancy G. Buccola, Jan K. Buitelaar, William E. Bunney, Joseph D. Buxbaum, William Byerley, Enda M. Byrne, Sian Caesar, Wiepke Cahn, Rita M. Cantor, Miguel Casas, Aravinda Chakravarti, Kimberly Chambert, Khalid Choudhury, Sven Cichon, C. Robert Cloninger, David Collier, Edwin H. Cook, Hilary Coon, Bru Cormand, Aiden Corvin, William Coryell, David W. Craig, Ian Craig, Jennifer Crosbie, Michael L. Cuccaro, David Curtis, Darina Czamara, Susmita Datta, Géraldine Dawson, Richard Day, Eco J. C. de Geus, Franziska Degenhardt, Srdjan Djurovic, Gary Donohoe, Alysa E. Doyle, Jubao Duan, Frank Dudbridge, Eftichia Duketis, Richard P. Ebstein, Howard J. Edenberg, Josephine Elia, Sean Ennis, Bruno Étain, Ayman H. Fanous, Anne Farmer, I. Nicol Ferrier, Matthew Flickinger, Éric Fombonne, Tatiana Foroud, Josef Frank, Barbara Franke, Christine Fraser

    منشور في 2013
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  17. 17
    A genome-wide linkage and association scan reveals novel loci for autism

    A genome-wide linkage and association scan reveals novel loci for autism حسب Lauren A. Weiss, Dan E. Arking, Mark J. Daly, Aravinda Chakravarti, Camille W. Brune, Kristen M. West, Ashley O’Connor, Gina M. Hilton, R Tomlinson, Andrew B. West, Edwin H. Cook, Todd Green, Shun-Chiao Chang, Stacey B. Gabriel, Casey Gates, Ellen Hanson, Andrew Kirby, Joshua M. Korn, Finny G. Kuruvilla, Steven McCarroll, Eric M. Morrow, Benjamin M. Neale, Shaun Purcell, Roksana Sasanfar, Carrie Sougnez, Christine Stevens, David Altshuler, James F. Gusella, Susan L. Santangelo, Pamela Sklar, Rudolph E. Tanzi, Richard Anney, Anthony Bailey, Gillian Baird, Agatino Battaglia, T. P. Berney, Catalina Betancur, Sven Bölte, Patrick Bolton, Jessica Brian, Susan E. Bryson, Joseph D. Buxbaum, Ines Cabrito, Guiqing Cai, Rita M. Cantor, Hilary Coon, Judith Conroy, Catarina Correia, Christina Corsello, Emily L. Crawford, Michael L. Cuccaro, Géraldine Dawson, Maretha Jonge, Bernie Devlin, Eftichia Duketis, Sean Ennis, Annette Estes, Penny Farrar, Éric Fombonne, Christine M. Freitag, Louise Gallagher, Daniel H. Geschwind, John R. Gilbert, Michael Gill, Christopher Gillberg, Jeremy Goldberg, Andrew Green, Jonathan Green, Stephen J. Guter, Jonathan L. Haines, Joachim Hallmayer, Vanessa Hus, Sabine M. Klauck, Olena Korvatska, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett L. Leventha, Xiaoqing Liu, Catherine Lord, Linda Lotspeich, Elena Maestrini, Tiago R. Magalhães, William J. Mahoney, Carine Mantoulan, Helen McConachie, Christopher J. McDougle, William M. McMahon, Christian R. Marshall, Judith Miller, Nancy J. Minshew, Anthony P. Monaco, Jeff Munson, John I. Nürnberger, Guiomar Oliveira, Alistair T. Pagnamenta, Katerina Papanikolaou, Jeremy Parr, Andrew D. Paterson

    منشور في 2009
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    Artigo
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  18. 18
    Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder

    Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder حسب Robert Maier, G. Möser, Guo‐Bo Chen, Stephan Ripke, William Coryell, James B. Potash, William A. Scheftner, Jianxin Shi, Myrna M. Weissman, Christina M. Hultman, Mikael Landén, Douglas F. Levinson, Kenneth S. Kendler, Jordan W. Smoller, Naomi R. Wray, Sang Lee, Devin Absher, Ingrid Agartz, Huda Akil, Farooq Amin, Ole A. Andreassen, Adebayo Anjorin, Richard Anney, Dan E. Arking, Philip Asherson, Maria Helena Pinto de Azevedo, Lena Backlund, Judith A. Badner, Anthony Bailey, Tobias Banaschewski, Jack D. Barchas, Michael R. Barnes, Thomas B. Barrett, Nicholas Bass, Agatino Battaglia, Michael Bauer, Mónica Bayés, Frank Bellivier, Sarah E. Bergen, Wade H. Berrettini, Catalina Betancur, Thomas Bettecken, Joseph Biederman, Elisabeth B. Binder, Donald W. Black, Douglas Blackwood, Cinnamon S. Bloss, Michael Boehnke, Dorret I. Boomsma, Gerome Breen, René Breuer, Richard Bruggeman, Nancy G. Buccola, Jan K. Buitelaar, William E. Bunney, Joseph D. Buxbaum, William Byerley, Sian Caesar, Wiepke Cahn, Rita M. Cantor, Miguel Casas, Aravinda Chakravarti, Kimberly Chambert, Khalid Choudhury, Sven Cichon, C. Robert Cloninger, David Collier, Edwin H. Cook, Hilary Coon, Bru Cormand, Paul Cormican, Aiden Corvin, William Coryell, Nicholas John Craddock, David W. Craig, Ian Craig, Jennifer Crosbie, Michael L. Cuccaro, David Curtis, Darina Czamara, Mark J. Daly, Susmita Datta, Géraldine Dawson, Richard Day, Eco J. C. de Geus, Franziska Degenhardt, Bernie Devlin, Srdjan Djurovic, Gary Donohoe, Alysa E. Doyle, Jubao Duan, Frank Dudbridge, Eftichia Duketis, Richard P. Ebstein, Howard J. Edenberg, Josephine Elia, Sean Ennis, Bruno Étain, Ayman Fanous, Stephen V. Faraone

    منشور في 2015
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  19. 19
    Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

    Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways حسب Colm Ó'Dúshláine, Lizzy Rossin, Sang Hyuck Lee, Laramie E. Duncan, Neelroop Parikshak, Stephen Newhouse, Stephan Ripke, Benjamin M. Neale, Shaun Purcell, Daniëlle Posthuma, John I. Nürnberger, Sang Lee, Stephen V. Faraone, Roy H. Perlis, Bryan Mowry, Anita Thapar, Michael E. Goddard, John S. Witte, Devin Absher, Ingrid Agartz, Huda Akil, Farooq Amin, Ole A. Andreassen, Adebayo Anjorin, Richard Anney, Verneri Anttila, Dan E. Arking, Philip Asherson, Maria H. Azevedo, Lena Backlund, Judith A. Badner, Anthony Bailey, Tobias Banaschewski, Jack D. Barchas, Michael R. Barnes, Thomas B. Barrett, Nicholas Bass, Agatino Battaglia, Michael Bauer, Mónica Bayés, Frank Bellivier, Sarah E. Bergen, Wade H. Berrettini, Catalina Betancur, Thomas Bettecken, Joseph Biederman, Elisabeth B. Binder, Donald W. Black, Douglas H. R. Blackwood, Cinnamon S. Bloss, Michael Boehnke, Dorret I. Boomsma, René Breuer, Richard Bruggeman, Paul Cormican, Nancy G. Buccola, Jan K. Buitelaar, William E. Bunney, Joseph D. Buxbaum, William Byerley, Enda M. Byrne, Sian Caesar, Wiepke Cahn, Rita M. Cantor, Miguel Casas, Aravinda Chakravarti, Kimberly Chambert, Khalid Choudhury, Sven Cichon, Manuel Mattheisen, C. Robert Cloninger, David Collier, Edwin H. Cook, Hilary Coon, Bru Cormand, Aiden Corvin, William Coryell, David W. Craig, Ian W. Craig, Jennifer Crosbie, Michael L. Cuccaro, David Curtis, Darina Czamara, Susmita Datta, Géraldine Dawson, Richard Day, Eco J. C. de Geus, Franziska Degenhardt, Srdjan Djurovic, Gary Donohoe, Alysa E. Doyle, Jubao Duan, Frank Dudbridge, Eftichia Duketis, Richard P. Ebstein, Howard J. Edenberg, Josephine Elia, Sean Ennis, Bruno Étain, Ayman Fanous

    منشور في 2015
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  20. 20
    Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

    Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders حسب Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang, Jacob Vorstman, Ann Thompson, Regina Regan, Marion Pilorge, Giovanna Pellecchia, Alistair T. Pagnamenta, Bárbara Oliveira, Christian R. Marshall, Tiago R. Magalhães, Jennifer K. Lowe, Jennifer Howe, Anthony J. Griswold, John R. Gilbert, Eftichia Duketis, Beth A. Dombroski, Maretha Jonge, Michael L. Cuccaro, Emily L. Crawford, Catarina Correia, Judith Conroy, Inês C. Conceição, Andreas G. Chiocchetti, Jillian P. Casey, Guiqing Cai, Christelle Cabrol, Nadia Bolshakova, Elena Bacchelli, Richard Anney, Steven Gallinger, Michelle Cotterchio, Graham Casey, Lonnie Zwaigenbaum, Kerstin Wittemeyer, Kirsty Wing, Simon Wallace, Hermán van Engeland, Ana Tryfon, Susanne Thomson, Latha Soorya, Bernadette Rogé, Wendy Roberts, Fritz Poustka, Susana Mouga, Nancy J. Minshew, L. Alison McInnes, Susan G. McGrew, Catherine Lord, Marion Leboyer, Ann S. Couteur, Alexander Kolevzon, Patricia González, Suma Jacob, Richard Holt, Stephen J. Guter, Jonathan Green, Andrew Green, Christopher Gillberg, Bridget A. Fernandez, Frederico Duque, Richard Delorme, Géraldine Dawson, Pauline Chaste, Cátia Café, S. Brennan, Thomas Bourgeron, Patrick Bolton, Sven Bölte, Raphael Bernier, Gillian Baird, Anthony Bailey, Evdokia Anagnostou, Joana Almeida, Ellen M. Wijsman, Veronica J. Vieland, Astrid M. Vicente, Gerard D. Schellenberg, Margaret A. Pericak‐Vance, Andrew D. Paterson, Jeremy Parr, Guiomar Oliveira, John I. Nürnberger, Anthony P. Monaco, Elena Maestrini, Sabine M. Klauck, Hákon Hákonarson, Jonathan L. Haines, Daniel H. Geschwind, Christine M. Freitag, Susan E. Folstein, Sean Ennis

    منشور في 2014
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