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Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, Sachdev R, Sinnema M, Skranes J, Veenstra-Knol HE, Verberne EA, Vulto-van Silfhout AT, Wilsterman MEF, Ahn EE, de Vries BBA, Vissers LELM. Dingemans AJM, et al. Eur J Hum Genet. 2022 Mar;30(3):271-281. doi: 10.1038/s41431-021-00960-4. Epub 2021 Sep 15. Eur J Hum Genet. 2022. PMID: 34521999 Free PMC article.
son is necessary for proper vertebrate blood development.
Belmonte RL, Engbretson IL, Kim JH, Cajias I, Ahn EE, Stachura DL. Belmonte RL, et al. PLoS One. 2021 Feb 25;16(2):e0247489. doi: 10.1371/journal.pone.0247489. eCollection 2021. PLoS One. 2021. PMID: 33630943 Free PMC article.
Molecular Mechanism of Inhibition of Acid Ceramidase by Carmofur.
Dementiev A, Joachimiak A, Nguyen H, Gorelik A, Illes K, Shabani S, Gelsomino M, Ahn EE, Nagar B, Doan N. Dementiev A, et al. J Med Chem. 2019 Jan 24;62(2):987-992. doi: 10.1021/acs.jmedchem.8b01723. Epub 2018 Dec 19. J Med Chem. 2019. PMID: 30525581 Free PMC article.
27 results