Torthaí cuardaigh - Meron Azage
- 1 - 2 toradh as 2 á dtaispeáint
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1
Missense variants in the chromatin remodeler <i>CHD1</i> are associated with neurodevelopmental disability de réir Genay Pilarowski, Hilary J. Vernon, Carolyn Applegate, Leandros Boukas, Megan T. Cho, Christina A. Gurnett, Paul J. Benke, Erin Beaver, Jennifer Heeley, Līvija Medne, Ian D. Krantz, Meron Azage, Dmitriy Niyazov, Lindsay B. Henderson, Ingrid M. Wentzensen, Berivan Baskin, María J. Guillen Sacoto, Gregory D. Bowman, Hans T. Björnsson
Foilsithe / Cruthaithe 2017Artigo -
2
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size de réir Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios A. Panoutsopoulos, Angelo Harlan De Crescenzo, Urania Kotzaeridou, Steffen Syrbe, Evdokia Anagnostou, Meron Azage, Renee Bend, Amber Begtrup, Natasha J. Brown, Benjamin Büttner, Megan T. Cho, Gregory M. Cooper, Jan H Doering, Christèle Dubourg, David B. Everman, Michael S. Hildebrand, Francis Jeshira Reynoso Santos, Barbara Kellam, Jennifer Keller‐Ramey, Johannes R. Lemke, Shuxi Liu, Dmitriy Niyazov, Katelyn Payne, Richard Person, Chloé Quēlin, Rhonda E. Schnur, Brooke Smith, Jonathan B. Strober, Susan Walker, Mathew Wallis, Laurence E. Walsh, Sandra Yang, Ryan K. C. Yuen, Andreas Ziegler, Heinrich Sticht, Michael C. Pride, Lori Orosco, Verónica Martínez‐Cerdeño, Jill L. Silverman, Jacqueline N. Crawley, Stephen W. Scherer, Konstantinos S. Zarbalis, Rami Abou Jamra
Foilsithe / Cruthaithe 2019Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Autism
Biology
Gene
Genetics
Medicine
Missense mutation
Phenotype
Psychiatry
Bioinformatics
Chromatin
Epigenetics
Exome sequencing
Haploinsufficiency
Heritability of autism
Intellectual disability
Loss function
Macrocephaly
Mendelian inheritance
Microcephaly
Mutation
Neurodevelopmental disorder
Neuroscience
Proband
Wnt signaling pathway