Bilaketaren emaitzak - Victoria R. Sanders
- Erakusten 1 - 3 emaitzak -- 3
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1
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition nork Sarah E. Sheppard, Michael March, Christoph Seiler, Leticia S. Matsuoka, S Kim, Charlly Kao, Adam I. Rubin, Mark R. Battig, Nahla Khalek, Erica Schindewolf, Nora O’Connor, Erin Pinto, Jessica Priestley, Victoria R. Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana J. Slater, Ilona J. Frieden, Thy Huynh, Joseph T.C. Shieh, Ian D. Krantz, Jessenia Guerrero, Lea F. Surrey, David M. Biko, Pablo Laje, Leslie Castelo‐Soccio, Taizo A. Nakano, Kristen Snyder, Christopher L. Smith, Dong Li, Yoav Dori, Hákon Hákonarson
Argitaratua 2023Artigo -
2
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder nork Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling, Jeremy W. Prokop, Krysta L. Engel, J. Nicholas Cochran, E. Martina Bebin, Emilia K. Bijlsma, Claudia Ruivenkamp, Paulien A. Terhal, Marleen Simon, Rosemarie Smith, Jane A. Hurst, Heather M. McLaughlin, Richard Person, Amy Crunk, Michael F. Wangler, Haley Streff, Joseph D. Symonds, Sameer M. Zuberi, Katherine S. Elliott, Victoria R. Sanders, Abigail Masunga, Robert J. Hopkin, Holly Dubbs, Xilma R. Ortiz‐González, Rolph Pfundt, Han G. Brunner, Simon E. Fisher, Tjitske Kleefstra, Gregory M. Cooper
Argitaratua 2018Artigo -
3
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 nork Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco‐Sánchez, Sandra Yang, Margot R.F. Reijnders, A.J. van Essen, Myriam Oufadem, Magnus Dehli Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton‐Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria R. Sanders, Joel Charrow, Emily Bryant, J Gordon Millichap, Antonio Vitobello, Christel Thauvin, Frédéric Tran Mau‐Them, Laurence Faivre, Gaëtan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Abdelgaber A. Aly, Anna Lehman, Lorne A. Clarke, Luitgard Graul‐Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozić, Ingvild Aukrust, Ryan Peretz, Robert F. Stratton, Thomas Smol, Anne Dieux‐Coëslier, Joanna Góes Castro Meira, Elizabeth Wohler, Nara Sobreira, Erin Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens‐Frederikse, Dawn Earl, Victoria Mok Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell‐Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Yang Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier‐Daire, Susana Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon
Argitaratua 2020Artigo
Bilaketa egiteko lanabesak:
Antzeko gaiak
Biology
Gene
Genetics
Missense mutation
Mutation
Noonan syndrome
Phenotype
Autism
Autism spectrum disorder
Bioinformatics
Blepharophimosis
Breast cancer
Cancer
Cancer research
Cell biology
Colorectal cancer
Developmental psychology
Dysplasia
Exome
Exome sequencing
Frameshift mutation
Gene expression
Germline
Germline mutation
Hypotonia
Immunology
Intellectual disability
KRAS
Lymphatic system
Lymphedema