نتائج البحث - Jennifer Gerdts
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De novo TBR1 mutations in sporadic autism disrupt protein functions حسب Pelagia Deriziotis, Brian J. O’Roak, Sarah A. Graham, Sara B. Estruch, D. Dimitropoulou, Raphael Bernier, Jennifer Gerdts, Jay Shendure, Evan E. Eichler, Simon E. Fisher
منشور في 2014Artigo -
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Risk factors for severe reactions in food allergy: Rapid evidence review with meta‐analysis حسب Paul Turner, Stefania Arasi, Barbara Ballmer‐Weber, Alessia Baseggio Conrado, A. Deschildre, Jennifer Gerdts, Susanne Halken, Antonella Muraro, Nandinee Patel, Ronald van Ree, Debra de Silva, Margitta Worm, Torsten Zuberbier, Graham Roberts
منشور في 2022Revisão -
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Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes حسب Hui Guo, Michael H. Duyzend, Bradley P. Coe, Carl Baker, Kendra Hoekzema, Jennifer Gerdts, Tychele N. Turner, Michael C. Zody, Jennifer S. Beighley, Shwetha C. Murali, Bradley J. Nelson, Michael J. Bamshad, Deborah A. Nickerson, Raphael Bernier, Evan E. Eichler
منشور في 2018Artigo -
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Prospective investigation of FOXP1 syndrome حسب Paige M. Siper, Silvia De Rubeis, Maria del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet, Yitzchak Frank, Reymundo Lozano, Evan E. Eichler, Morgan Kelly, Jennifer S. Beighley, Jennifer Gerdts, Arianne S. Wallace, Heather C. Mefford, Raphael Bernier, Alexander Kolevzon, Joseph D. Buxbaum
منشور في 2017Artigo -
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The transcriptional regulator <i>ADNP</i> links the BAF (SWI/SNF) complexes with autism حسب Geert Vandeweyer, Céline Helsmoortel, Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Bradley P. Coe, Raphael Bernier, Jennifer Gerdts, Liesbeth Rooms, Jenneke van den Ende, Madhura Bakshi, Meredith Wilson, Ann Nordgren, Laura G. Hendon, Omar Abdul‐Rahman, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, Evan E. Eichler, Nathalie Van der Aa, R. Frank Kooy
منشور في 2014Artigo -
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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID حسب 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
منشور في 2015Artigo -
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Clinical phenotype of the recurrent 1q21.1 copy-number variant حسب Raphael Bernier, Kyle J. Steinman, Beau Reilly, Arianne S. Wallace, Elliott H. Sherr, Nicholas J. Pojman, Heather C. Mefford, Jennifer Gerdts, Rachel K. Earl, Ellen Hanson, Robin P. Goin‐Kochel, Leandra N. Berry, Stephen M. Kanne, LeeAnne Green Snyder, Sarah Spence, Melissa B. Ramocki, David W. Evans, John E. Spiro, Alastair J. Martin, David H. Ledbetter, Wendy K. Chung
منشور في 2015Artigo -
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Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development حسب 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
منشور في 2014Artigo -
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Time to ACT-UP: Update on precautionary allergen labelling (PAL) حسب Paul Turner, Antonio Bognanni, Stefania Arasi, Ignacio J. Ansotegui, Sabine Schnadt, Sébastien La Vieille, Jonathan O’B Hourihane, Torsten Zuberbier, Philippe Eigenmann, Motohiro Ebisawa, Mário Morais‐Almeida, Julie Barnett, Bryan Martin, Linda Monaci, Graham Roberts, Gary Wong, Ruchi S. Gupta, Sophia Tsabouri, E. N. Clare Mills, Simon Brooke‐Taylor, Joan Bartra, Michael C. Levin, Marion Groetch, Luciana Kase Tanno, Elham Hossny, Barbara B. Weber, Vincenzo Fierro, Benjamin C. Remington, Jennifer Gerdts, M. Hazel Gowland, Derek K. Chu, Marjan van Ravenhorst, Jennifer J. Koplin, Alessandro Fiocchi
منشور في 2024Revisão -
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A Multisite Study of the Clinical Diagnosis of Different Autism Spectrum Disorders حسب Catherine Lord, Eva Petkova, Vanessa Hus, Weijin Gan, Feihan Lu, Donna M. Martin, Opal Ousley, Lisa Guy, Raphael Bernier, Jennifer Gerdts, Molly Algermissen, Agnes H. Whitaker, James S. Sutcliffe, Zachary Warren, Ami Klin, Celine A. Saulnier, Ellen Hanson, Rachel J. Hundley, Judith Piggot, Éric Fombonne, Mandy Steiman, Judith H. Miles, Stephen M. Kanne, Robin P. Goin‐Kochel, Sarika U. Peters, Edwin H. Cook, Stephen J. Guter, Jennifer Tjernagel, Lee Anne Green-Snyder, Somer Bishop, Amy Esler, Katherine Gotham, Rhiannon Luyster, Fiona K. Miller, Jennifer Olson, Jennifer Richler, Susan Risi
منشور في 2011Artigo -
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders حسب 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
منشور في 2016Artigo
أدوات البحث:
موضوعات ذات صلة
Medicine
Autism
Biology
Autism spectrum disorder
Genetics
Gene
Psychology
Psychiatry
Developmental psychology
Phenotype
Intellectual disability
Mutation
Allergy
Clinical psychology
Immunology
Neurodevelopmental disorder
Neuroscience
Food allergy
Genome
Internal medicine
Microcephaly
Pathology
Pediatrics
Copy-number variation
Disease
Exome sequencing
Family medicine
Neurotypical
Speech delay
Antibody