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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J. Van Bergen NJ, et al. Among authors: sleiman p. Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374. Brain. 2020. PMID: 31794024 Free PMC article.
Examination of genetic variants influencing lipid traits in pediatric populations.
Wang K, Zhang H, Mentch FD, Bradfield JP, Glessner JT, Qiu H, Guo Y, Hou C, Frackelton EC, Thomas K, Bender A, Albano A, Otieno G, Garris M, Seidler K, Moy A, Kim CE, Keating B, Chiavacci RM, Grundmeier R, Sleiman PA, Grant SF, Hakonarson H. Wang K, et al. Among authors: sleiman pa. J Pediatr Genet. 2012 Jun;1(2):85-98. doi: 10.3233/PGE-2012-016. J Pediatr Genet. 2012. PMID: 27625808 Free PMC article.
246 results