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Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.
Lukacs M, Gilley J, Zhu Y, Orsomando G, Angeletti C, Liu J, Yang X, Park J, Hopkin RJ, Coleman MP, Zhai RG, Stottmann RW. Lukacs M, et al. Among authors: stottmann rw. Exp Neurol. 2019 Oct;320:112961. doi: 10.1016/j.expneurol.2019.112961. Epub 2019 May 25. Exp Neurol. 2019. PMID: 31136762 Free PMC article.
Differential requirements of tubulin genes in mammalian forebrain development.
Bittermann E, Abdelhamed Z, Liegel RP, Menke C, Timms A, Beier DR, Stottmann RW. Bittermann E, et al. Among authors: stottmann rw. PLoS Genet. 2019 Aug 6;15(8):e1008243. doi: 10.1371/journal.pgen.1008243. eCollection 2019 Aug. PLoS Genet. 2019. PMID: 31386652 Free PMC article.
Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants.
Snedeker J, Gibbons WJ Jr, Paulding DF, Abdelhamed Z, Prows DR, Stottmann RW. Snedeker J, et al. Among authors: stottmann rw. PLoS Genet. 2019 Nov 15;15(11):e1008467. doi: 10.1371/journal.pgen.1008467. eCollection 2019 Nov. PLoS Genet. 2019. PMID: 31730647 Free PMC article.
70 results