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Combinatorial glucose, nicotinic acid and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease.
Guha S, Mathew ND, Konkwo C, Ostrovsky J, Kwon YJ, Polyak E, Seiler C, Bennett M, Xiao R, Zhang Z, Nakamaru-Ogiso E, Falk MJ. Guha S, et al. Among authors: seiler c. Hum Mol Genet. 2021 May 12;30(7):536-551. doi: 10.1093/hmg/ddab059. Hum Mol Genet. 2021. PMID: 33640978 Free PMC article.
N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease.
Polyak E, Ostrovsky J, Peng M, Dingley SD, Tsukikawa M, Kwon YJ, McCormack SE, Bennett M, Xiao R, Seiler C, Zhang Z, Falk MJ. Polyak E, et al. Among authors: seiler c. Mol Genet Metab. 2018 Apr;123(4):449-462. doi: 10.1016/j.ymgme.2018.02.013. Epub 2018 Feb 23. Mol Genet Metab. 2018. PMID: 29526616 Free PMC article.
The FusX TALE Base Editor (FusXTBE) for Rapid Mitochondrial DNA Programming of Human Cells In Vitro and Zebrafish Disease Models In Vivo.
Sabharwal A, Kar B, Restrepo-Castillo S, Holmberg SR, Mathew ND, Kendall BL, Cotter RP, WareJoncas Z, Seiler C, Nakamaru-Ogiso E, Clark KJ, Ekker SC. Sabharwal A, et al. Among authors: seiler c. CRISPR J. 2021 Dec;4(6):799-821. doi: 10.1089/crispr.2021.0061. Epub 2021 Nov 30. CRISPR J. 2021. PMID: 34847747 Free PMC article.
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
Li D, Wenger TL, Seiler C, March ME, Gutierrez-Uzquiza A, Kao C, Bhoj E, Tian L, Rosenbach M, Liu Y, Robinson N, Behr M, Chiavacci R, Hou C, Wang T, Bakay M, Pellegrino da Silva R, Perkins JA, Sleiman P, Levine MA, Hicks PJ, Itkin M, Dori Y, Hakonarson H. Li D, et al. Among authors: seiler c. Hum Mol Genet. 2018 Sep 15;27(18):3233-3245. doi: 10.1093/hmg/ddy218. Hum Mol Genet. 2018. PMID: 29905864 Free PMC article.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallières M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K. Fiordaliso SK, et al. Among authors: seiler c. Am J Hum Genet. 2019 Nov 7;105(5):987-995. doi: 10.1016/j.ajhg.2019.09.009. Epub 2019 Oct 3. Am J Hum Genet. 2019. PMID: 31587868 Free PMC article.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Li D, March ME, Fortugno P, Cox LL, Matsuoka LS, Monetta R, Seiler C, Pyle LC, Bedoukian EC, Sánchez-Soler MJ, Caluseriu O, Grand K, Tam A, Aycinena ARP, Camerota L, Guo Y, Sleiman P, Callewaert B, Kumps C, Dheedene A, Buckley M, Kirk EP, Turner A, Kamien B, Patel C, Wilson M, Roscioli T, Christodoulou J, Cox TC, Zackai EH, Brancati F, Hakonarson H, Bhoj EJ. Li D, et al. Among authors: seiler c. Hum Genet. 2021 Jul;140(7):1061-1076. doi: 10.1007/s00439-021-02274-3. Epub 2021 Apr 3. Hum Genet. 2021. PMID: 33811546 Free PMC article.
734 results