Kết quả tìm kiếm - Elliot Stolerman
- Đang hiển thị 1 - 5 kết quả của 5
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1
Branched chain and aromatic amino acids change acutely following two medical therapies for type 2 diabetes mellitus Bằng Geoffrey Walford, Jaclyn Davis, Ana Sofia Warner, Rachel Ackerman, Liana K. Billings, Bindu Chamarthi, Rebecca R. Fanelli, Alicia Hernández, Chunmei Huang, Sabina Khan, Katherine R. Littleton, Janet Lo, Rita McCarthy, Eugene P. Rhee, Amy Deik, Elliot Stolerman, Andrew M. Taylor, Margo Hudson, Thomas J. Wang, David Altshuler, Richard W. Grant, Clary B. Clish, Robert E. Gerszten, José C. Florez
Được phát hành 2013Artigo -
2
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms Bằng Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia, Berrak Uğur, Jeremy Wegner, Tiana M. Scott, Brett Bostwick, David R. Murdock, Hongzheng Dai, Elena Perenthaler, Anita Nikoncuk, Marjon van Slegtenhorst, Alice S. Brooks, Boris Keren, Caroline Nava, Cyril Mignot, Jessica Douglas, Lance H. Rodan, C. Nowak, Sian Ellard, Karen Stals, Sally Ann Lynch, Marie Faoucher, Gaëtan Lesca, Patrick Edery, Kendra Engleman, Dihong Zhou, Isabelle Thiffault, John Herriges, Jennifer Gass, Raymond J. Louie, Elliot Stolerman, Camerun Washington, Francesco Vetrini, Aiko Iwata‐Otsubo, Victoria M. Pratt, Erin Conboy, Kayla Treat, Nora Shannon, Jose A. Camacho, Emma Wakeling, Bo Yuan, Chun‐An Chen, Jill A. Rosenfeld, Monte Westerfield, Michael F. Wangler, Shinya Yamamoto, Cigall Kadoch, Daryl A. Scott, Hugo J. Bellen
Được phát hành 2020Artigo -
3
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt Bằng James L. Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae‐Ik Choi, Carolyn A Allan, David J. Amor, Siddharth Banka, Donald Basel, Laura D. Buch, Deanna Alexis Carere, Renée Carroll, Jill Clayton‐Smith, Ali Crawford, Morten Dunø, Laurence Faivre, Christopher P. Gilfillan, Nina B. Gold, Karen W. Gripp, Emma Hobson, Alexander M. Holtz, A. Micheil Innes, Bertrand Isidor, Adam Jackson, Panagiotis Katsonis, Leila Amel Riazat Kesh, Sébastien Küry, François Lecoquierre, Paul J. Lockhart, Julien Maraval, Naomichi Matsumoto, Julie McCarrier, Josephine McCarthy, Noriko Miyake, Lip Hen Moey, Andrea H. Németh, Elsebet Østergaard, Rushina Patel, Kate Pope, Jennifer E. Posey, Rhonda E. Schnur, Marie Shaw, Elliot Stolerman, Julie P. Taylor, Erin Wadman, Emma Wakeling, Susan M. White, Lawrence C. Wong, James R. Lupski, Olivier Lichtarge, Mark Corbett, Jozef Gécz, Charles M. Nicolet, Peggy Farnham, Cheol‐Hee Kim, Marwan Shinawi
Được phát hành 2024Artigo -
4
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder Bằng Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong‐Hee Chae, Murim Choi, Karine Siquier-Pernet, Vincent Cantagrel, Jeanne Amiel, Elliot Stolerman, Sarah Barnett, Margot A. Cousin, Diana Castro, Kimberly S. McDonald, Brian Kirmse, Andrea H. Németh, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle C. Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, I. Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja Kristine Selmer, Roser Urreizti, A. García Oguiza, A. Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah McCurry, John E. Landers, Sameer Agnihotri, Elena Corina Andriescu, Shade Moody, Chanika Phornphutkul, María J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik–Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Được phát hành 2021Artigo -
5
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Bằng Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin, Nancy Végas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D. Weisfeld‐Adams, Davor Lessel, Shelagh Joss, Chumei Li, Claudia Gonzaga‐Jauregui, Yuri A. Zárate, Nadja Ehmke, Denise Horn, Caitlin Troyer, Sarina G. Kant, Youngha Lee, Gisele E. Ishak, Gordon Leung, Amanda Barone Pritchard, Sandra Yang, Eric G. Bend, Francesca Filippini, Chelsea Roadhouse, Nicolas Lebrun, Michele G. Mehaffey, Pierre‐Marie Martin, Benjamin J. Apple, Francisca Millan, Oliver Puk, Mariëtte J.V. Hoffer, Lindsay B. Henderson, Ruth McGowan, Ingrid M. Wentzensen, Steven Lim Cho Pei, Farah Zahir, Mullin H.C. Yu, William T. Gibson, Ann Seman, Marcie Steeves, Jill R. Murrell, Sabine Luettgen, E. Nicolás Francisco, Tim M. Strom, Louise Amlie‐Wolf, Angela M. Kaindl, William G. Wilson, Sara Halbach, Lina Basel‐Vanagaite, Noa Lev-El, Jonas Denecke, Lisenka E.L.M. Vissers, Kelly Radtke, Jamel Chelly, Elaine H. Zackai, Jan M. Friedman, Michael J. Bamshad, Deborah A. Nickerson, Russell R. Reid, Koenraad Devriendt, Jong‐Hee Chae, Elliot Stolerman, Carey McDougall, Zöe Powis, Thierry Bienvenu, Tiong Yang Tan, Naama Orenstein, William B. Dobyns, Joseph T.C. Shieh, Murim Choi, Darrel Waggoner, Karen W. Gripp, Michael Parker, Joan M. Stoler, Stanislas Lyonnet, Valérie Cormier‐Daire, David Viskochil, Trevor L. Hoffman, Jeanne Amiel, Brian Hon‐Yin Chung, Christopher T. Gordon
Được phát hành 2019Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Phenotype
Haploinsufficiency
Intellectual disability
Neurodevelopmental disorder
Hypotonia
Medicine
Missense mutation
Neuroscience
Ataxia
Cell biology
Chromatin
Chromatin remodeling
Craniofacial
Craniofacial abnormality
Diabetes mellitus
Endocrinology
Epilepsy
Exome
Exome sequencing
Exon
Germline
Germline mosaicism
Glipizide
Insulin
Insulin resistance
Internal medicine
Loss function