検索結果 - Alyssa Blesson
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Genetic Counseling in Neurodevelopmental Disorders 著者: Alyssa Blesson, Julie S. Cohen
出版事項 2019Revisão -
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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders 著者: Bret L. Bostwick, Scott D. McLean, Jennifer E. Posey, Haley Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell‐Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K. Grange, Marisa V. Andrews, Marybeth Hummel, Suneeta Madan‐Khetarpal, Elena Infante, Zeynep Coban‐Akdemir, Karol Miszalski‐Jamka, John L. Jefferies, Jill A. Rosenfeld, Lisa Emrick, Kimberly Nugent, James R. Lupski, John W. Belmont, Brendan Lee, Seema R. Lalani
出版事項 2017Artigo -
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders 著者: Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcová, Stéphanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Bürglen, Stéphanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Rosa Pisani, Conceição Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Guéden, Omer Bar‐Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago‐Sim, Richard Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong‐Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad Mahdi Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz‐Rogers, Eric W. Klee, David A. Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier González‐Peñas, Ãngel Carracedo, Arie van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Héron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, Michael G. Hanna, Enrico Bugiardini, Isabel C. Hostettler, Benjamin O’Callaghan, Alaa Khan, Andrea Cortese, Emer O’Connor, Wai Y. Yau, Thomas Bourinaris, Rauan Kaiyrzhanov, Viorica Chelban, M Madej, Maria C. Diana, Maria S. Vari, Marina Pedemonte, Claudio Bruno, Ganna Balagura, Marcello Scala, Chiara Fiorillo, Lino Nobili, Nancy T. Malintan, M. Natalia Zanetti, Shyam S. Krishnakumar, Gabriele Lignani, James E.C. Jepson, Paolo Broda, Sımona Baldassari, Pia Rossi, Floriana Fruscione, Francesca Madia
出版事項 2019Artigo
関連主題
Biology
Genetics
Gene
Intellectual disability
Medicine
Neuroscience
AMPA receptor
Allelic heterogeneity
Autism
Autism spectrum disorder
Bioinformatics
Botany
Cohort
Etiology
Exome sequencing
Genetic counseling
Genetic testing
Glutamate receptor
Glutamatergic
Human genetics
Identification (biology)
Medical genetics
Missense mutation
Mutation
Neurodevelopmental disorder
Pathology
Penetrance
Phenotype
Protein subunit
Psychiatry