Search Results - Chi Vicky Cheng
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Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations by Kaitlyn Zenner, Chi Vicky Cheng, Dana M. Jensen, Andrew E. Timms, Giridhar M. Shivaram, Randall A. Bly, Sheila Ganti, Kathryn B. Whitlock, William B. Dobyns, Jonathan A. Perkins, James T. Bennett
Published 2019Artigo -
2
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly by Diana Alcantara, Andrew E. Timms, Karen W. Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Vicky Cheng, Fiona Stewart, Sarju Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I. Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A. Bernstein, Aaron M. Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez‐Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M. Graham, Robert F. Hevner, William B. Dobyns, Mark O’Driscoll, Ghayda Mirzaa
Published 2017Artigo -
3
Redefining the Etiologic Landscape of Cerebellar Malformations by Kimberly A. Aldinger, Andrew E. Timms, Zachary Thomson, Ghayda Mirzaa, James T. Bennett, Alexander Rosenberg, Charles M. Roco, Matthew Hirano, Fatima Abidi, Parthiv Haldipur, Chi Vicky Cheng, Sarah Collins, Kaylee Park, Jordan Zeiger, Lynne M. Overmann, Fowzan S. Alkuraya, Leslie G. Biesecker, Stephen R. Braddock, Sara Cathey, Megan T. Cho, Brian Hon‐Yin Chung, David B. Everman, Yuri A. Zárate, Julie R. Jones, Charles E. Schwartz, Amy Goldstein, Robert J. Hopkin, Ian D. Krantz, Roger L. Ladda, Kathleen A. Leppig, Barbara McGillivray, Susan L. Sell, Katherine Wusik, Joseph G. Gleeson, Deborah A. Nickerson, Michael J. Bamshad, Dianne Gerrelli, Steven Lisgo, Georg Seelig, Gisele E. Ishak, A. James Barkovich, Cynthia J. Curry, Ian Glass, Kathleen J. Millen, Dan Doherty, William B. Dobyns
Published 2019Artigo
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Biology
Gene
Genetics
Medicine
Mutation
Neuroscience
Pathology
Phenotype
AKT1
AKT3
Allele
Apoptosis
Cancer research
Cerebellar hypoplasia (non-human)
Cerebellum
Correlation
Cortical dysplasia
Digital polymerase chain reaction
Epilepsy
Exome
Exome sequencing
Genetic testing
Genotype
Geometry
Haploinsufficiency
Immunology
Lymphatic system
Mathematics
Megalencephaly
Missense mutation