Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autismSchaaf, Christian P ; Gonzalez-Garay, Manuel L ; Xia, Fan ; Potocki, Lorraine ; Gripp, Karen W ; Zhang, Baili ; Peters, Brock A ; McElwain, Mark A ; Drmanac, Radoje ; Beaudet, Arthur L ; Caskey, C Thomas ; Yang, YapingNature genetics, 2013-11, Vol.45 (11), p.1405-1408 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
|
2 |
Material Type: Artigo
|
Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathyMo, Zhongying ; Zhao, Xiaobei ; Liu, Huaqing ; Hu, Qinghua ; Chen, Xu-Qiao ; Pham, Jessica ; Wei, Na ; Liu, Ze ; Zhou, Jiadong ; Burgess, Robert W ; Pfaff, Samuel L ; Caskey, C Thomas ; Wu, Chengbiao ; Bai, Ge ; Yang, Xiang-LeiNature communications, 2018-03, Vol.9 (1), p.1007-11, Article 1007 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
|
3 |
Material Type: Artigo
|
Personalized genomic disease risk of volunteersGonzalez-Garay, Manuel L. ; McGuire, Amy L. ; Pereira, Stacey ; Caskey, C. ThomasProceedings of the National Academy of Sciences - PNAS, 2013-10, Vol.110 (42), p.16957-16962 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
|
4 |
Material Type: Artigo
|
Stephen T. Warren: Human geneticist who advanced understanding of mutational mechanisms and developmental disordersNelson, David L ; Caskey, C ThomasProceedings of the National Academy of Sciences - PNAS, 2021-08, Vol.118 (34), p.1 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
|
5 |
Material Type: Artigo
|
Correction of Chromosomal Mutation and Random Integration in Embryonic Stem Cells with Helper-Dependent Adenoviral VectorsOhbayashi, Fumi ; Balamotis, Michael A. ; Kishimoto, Atsuhiro ; Aizawa, Emi ; Diaz, Arturo ; Hasty, Paul ; Graham, Frank L. ; Caskey, C. Thomas ; Mitani, KohnosukeProceedings of the National Academy of Sciences - PNAS, 2005-09, Vol.102 (38), p.13628-13633 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
|
6 |
Material Type: Artigo
|
Leptin receptor missense mutation in the fatty Zucker ratPhillips, Michael S ; Liu, Qingyun ; Hammond, Holly A ; Dugan, Valarie ; Hey, Patricia J ; Caskey, C. Thomas ; Hess, J. FredNature genetics, 1996-05, Vol.13 (1), p.18-19 [Periódico revisado por pares]United StatesTexto completo disponível |
|
7 |
Material Type: Artigo
|
Disease Diagnosis by Recombinant DNA MethodsCaskey, C. ThomasScience (American Association for the Advancement of Science), 1987-06, Vol.236 (4806), p.1223-1229 [Periódico revisado por pares]Washington, DC: The American Association for the Advancement of ScienceTexto completo disponível |
|
8 |
Material Type: Artigo
|
Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groupsEdwards, Al ; Hammond, Holly A. ; Jin, Li ; Caskey, C.Thomas ; Chakraborty, RanajitGenomics (San Diego, Calif.), 1992-02, Vol.12 (2), p.241-253 [Periódico revisado por pares]San Diego, CA: Elsevier IncTexto completo disponível |
|
9 |
Material Type: Artigo
|
The Molecular Basis of the Sparse Fur Mouse MutationVeres, Gabor ; Gibbs, Richard A. ; Scherer, Steven E. ; Caskey, C. ThomasScience (American Association for the Advancement of Science), 1987-07, Vol.237 (4813), p.415-417 [Periódico revisado por pares]Washington, DC: The American Association for the Advancement of ScienceTexto completo disponível |
|
10 |
Material Type: Artigo
|
An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular DystrophyFu, Y. H. ; Pizzuti, A. ; Fenwick, R. G. ; King, J. ; Rajnarayan, S. ; Dunne, P. W. ; Dubel, J. ; Nasser, G. A. ; Ashizawa, T. ; De Jong, P. ; Wieringa, B. ; Korneluk, R. ; Perryman, M. B. ; Epstein, H. F. ; Caskey, C. ThomasScience (American Association for the Advancement of Science), 1992-03, Vol.255 (5049), p.1256-1258 [Periódico revisado por pares]WASHINGTON: American Society for the Advancement of ScienceTexto completo disponível |