De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Autor: Ssang-Taek Lim, Helger G. Yntema, Tara Funari, Alexander P.A. Stegmann, Daniel G. MacArthur, Jung-Hyun Kim, Bert B.A. de Vries, Alyson Krokosky, Joost Nicolai, Sha Tang, Serge Romana, Megan T. Cho, Joris A. Veltman, Berivan Baskin, Vandana Shashi, Clesson Turner, Deepali N. Shinde, Maja Hempel, Franco Laccone, Lisenka E.L.M. Vissers, Richard M. Myers, Grazia M.S. Mancini, Daniëlle G.M. Bosch, Eun-Young Erin Ahn, Tamison Jewett, Ganka Douglas, Margot R.F. Reijnders, Eun Young Park, Axel Neu, Dong-Er Zhang, Joshua K. Stone, Davor Lessel, Connie T.R.M. Stumpel, Helga Rehder, Christopher T. Gordon, Luis Rohena, Laurie B. Owen, Dima El-Khechen, Jana Behunova, Tim M. Strom, Julie Vogt, Andrea H. Seeley, Kirsty McWalter, Nuria C. Bramswig, Margje Sinnema, Marlène Rio, Natalie Hauser, Rebecca L. Belmonte, Servi J. C. Stevens, Kristin Lindstrom, Han G. Brunner, Fanny Kortüm, Kelly Schoch, Amber Begtrup, Kristine K. Bachman, Paula A. Bubulya, Stephanie L. Santoro, Jos M. T. Draaisma, Dagmar Wieczorek, Xu Yao, David L. Stachura, Slavé Petrovski, Gregory R. Wilson, David Traver

Publikováno v: American Journal of Human Genetics, 99, 711-9
American Journal of Human Genetics, 99, 3, pp. 711-9
Am. J. Hum. Genet. 99, 711-719 (2016)
American Journal of Human Genetics, 99(3), 711-719. Cell Press

Contains fulltext : 167701.pdf (Publisher’s version ) (Open Access) The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24e396932df67a7298787b488ed1f431
https://doi.org/10.1016/j.ajhg.2016.06.029

Modeling Seasonal Patterns of Blowing Dust on the Southern High Plains

Autor: Udai B. Singh, J. M. Gregory, Gregory R. Wilson, Jeffrey A. Lee

Publikováno v: Desert Aeolian Processes ISBN: 9789401065191

The Southern High Plains of the United States are notorious for blowing dust, especially during the “dust bowl” of the 1930s. Dust is an environmental and health hazard that can be mitigated with understanding and management. To aid in the unders

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5696761c768ae9e25a5d1b711ba666bc
https://doi.org/10.1007/978-94-009-0067-7_11

A Concept for NASA's Mars 2016 Astrobiology Field Laboratory.

Autor: Luther W. Beegle, Michael G. Wilson, Fernando Abilleira, James F. Jordan, Gregory R. Wilson

Publikováno v: Astrobiology; Aug2007, Vol. 7 Issue 4, p545-577, 33p