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An Overview of UBTF Neuroregression Syndrome.
Braden AA, Xiao J, Hori R, Brown C, Khan MM. Braden AA, et al. Among authors: khan mm. Brain Sci. 2024 Feb 15;14(2):179. doi: 10.3390/brainsci14020179. Brain Sci. 2024. PMID: 38391753 Free PMC article. Review.
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group; LeDoux MS. Toro C, et al. Among authors: khan mm. Hum Mol Genet. 2018 Feb 15;27(4):691-705. doi: 10.1093/hmg/ddx435. Hum Mol Genet. 2018. PMID: 29300972 Free PMC article.
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group; LeDoux MS. Toro C, et al. Among authors: khan mm. Hum Mol Genet. 2018 Apr 1;27(7):1310. doi: 10.1093/hmg/ddy049. Hum Mol Genet. 2018. PMID: 29447355 Free PMC article. No abstract available.
Consequences of Cre-mediated deletion of Ciz1 exon 5 in mice.
Xiao J, Khan MM, Vemula S, Tian J, LeDoux MS. Xiao J, et al. Among authors: khan mm. FEBS Lett. 2018 Sep;592(18):3101-3110. doi: 10.1002/1873-3468.13221. Epub 2018 Aug 29. FEBS Lett. 2018. PMID: 30098009 Free PMC article.
1,454 results