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145 results

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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bosch DGM, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J; University of Washington Center for Mendelian Genomics; Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J; Deciphering Developmental Disorders Study; Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann APA, Stevens SJC, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LELM, Ahn EYE. Kim JH, et al. Among authors: traver d. Am J Hum Genet. 2016 Sep 1;99(3):711-719. doi: 10.1016/j.ajhg.2016.06.029. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545680 Free PMC article.
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert Syndrome Related Disorders Study Group; Valente EM, Woods CG, Gleeson JG. Cantagrel V, et al. Among authors: traver d. Am J Hum Genet. 2008 Aug;83(2):170-9. doi: 10.1016/j.ajhg.2008.06.023. Am J Hum Genet. 2008. PMID: 18674751 Free PMC article.
Identification of dendritic antigen-presenting cells in the zebrafish.
Lugo-Villarino G, Balla KM, Stachura DL, Bañuelos K, Werneck MB, Traver D. Lugo-Villarino G, et al. Among authors: traver d. Proc Natl Acad Sci U S A. 2010 Sep 7;107(36):15850-5. doi: 10.1073/pnas.1000494107. Epub 2010 Aug 23. Proc Natl Acad Sci U S A. 2010. PMID: 20733076 Free PMC article.
Clonal analysis of hematopoietic progenitor cells in the zebrafish.
Stachura DL, Svoboda O, Lau RP, Balla KM, Zon LI, Bartunek P, Traver D. Stachura DL, et al. Among authors: traver d. Blood. 2011 Aug 4;118(5):1274-82. doi: 10.1182/blood-2011-01-331199. Epub 2011 Mar 17. Blood. 2011. PMID: 21415264 Free PMC article.
Cellular dissection of zebrafish hematopoiesis.
Stachura DL, Traver D. Stachura DL, et al. Among authors: traver d. Methods Cell Biol. 2011;101:75-110. doi: 10.1016/B978-0-12-387036-0.00004-9. Methods Cell Biol. 2011. PMID: 21550440 Review.
145 results