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Year Number of Results
2004 2
2008 1
2011 1
2012 1
2013 2
2015 1
2017 1
2018 2
2021 0
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Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
Pomerantz DJ, Ferdinandusse S, Cogan J, Cooper DN, Reimschisel T, Robertson A, Bican A, McGregor T, Gauthier J, Millington DS, Andrae JLW, Tschannen MR, Helbling DC, Demos WM, Denis S, Wanders RJA, Newman JN, Hamid R, Phillips JA 3rd; Collaborators of UDN. Pomerantz DJ, et al. Among authors: tschannen mr. Am J Med Genet A. 2018 Mar;176(3):692-698. doi: 10.1002/ajmg.a.38602. Epub 2018 Feb 1. Am J Med Genet A. 2018. PMID: 29388319 Free PMC article. Review.
Plasma exosomal miRNAs-based prognosis in metastatic kidney cancer.
Du M, Giridhar KV, Tian Y, Tschannen MR, Zhu J, Huang CC, Kilari D, Kohli M, Wang L. Du M, et al. Among authors: tschannen mr. Oncotarget. 2017 Jul 22;8(38):63703-63714. doi: 10.18632/oncotarget.19476. eCollection 2017 Sep 8. Oncotarget. 2017. PMID: 28969022 Free PMC article.
Genomics in clinical practice: lessons from the front lines.
Jacob HJ, Abrams K, Bick DP, Brodie K, Dimmock DP, Farrell M, Geurts J, Harris J, Helbling D, Joers BJ, Kliegman R, Kowalski G, Lazar J, Margolis DA, North P, Northup J, Roquemore-Goins A, Scharer G, Shimoyama M, Strong K, Taylor B, Tsaih SW, Tschannen MR, Veith RL, Wendt-Andrae J, Wilk B, Worthey EA. Jacob HJ, et al. Among authors: tschannen mr. Sci Transl Med. 2013 Jul 17;5(194):194cm5. doi: 10.1126/scitranslmed.3006468. Sci Transl Med. 2013. PMID: 23863829
Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing.
Liu P, Morrison C, Wang L, Xiong D, Vedell P, Cui P, Hua X, Ding F, Lu Y, James M, Ebben JD, Xu H, Adjei AA, Head K, Andrae JW, Tschannen MR, Jacob H, Pan J, Zhang Q, Van den Bergh F, Xiao H, Lo KC, Patel J, Richmond T, Watt MA, Albert T, Selzer R, Anderson M, Wang J, Wang Y, Starnes S, Yang P, You M. Liu P, et al. Among authors: tschannen mr. Carcinogenesis. 2012 Jul;33(7):1270-6. doi: 10.1093/carcin/bgs148. Epub 2012 Apr 17. Carcinogenesis. 2012. PMID: 22510280 Free PMC article.
Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.
Atanur SS, Diaz AG, Maratou K, Sarkis A, Rotival M, Game L, Tschannen MR, Kaisaki PJ, Otto GW, Ma MC, Keane TM, Hummel O, Saar K, Chen W, Guryev V, Gopalakrishnan K, Garrett MR, Joe B, Citterio L, Bianchi G, McBride M, Dominiczak A, Adams DJ, Serikawa T, Flicek P, Cuppen E, Hubner N, Petretto E, Gauguier D, Kwitek A, Jacob H, Aitman TJ. Atanur SS, et al. Among authors: tschannen mr. Cell. 2013 Aug 1;154(3):691-703. doi: 10.1016/j.cell.2013.06.040. Epub 2013 Jul 25. Cell. 2013. PMID: 23890820 Free PMC article.
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.
Cumming SA, Hamilton MJ, Robb Y, Gregory H, McWilliam C, Cooper A, Adam B, McGhie J, Hamilton G, Herzyk P, Tschannen MR, Worthey E, Petty R, Ballantyne B; Scottish Myotonic Dystrophy Consortium, Warner J, Farrugia ME, Longman C, Monckton DG. Cumming SA, et al. Among authors: tschannen mr. Eur J Hum Genet. 2018 Nov;26(11):1635-1647. doi: 10.1038/s41431-018-0156-9. Epub 2018 Jul 2. Eur J Hum Genet. 2018. PMID: 29967337 Free PMC article.
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP. Worthey EA, et al. Among authors: tschannen mr. Genet Med. 2011 Mar;13(3):255-62. doi: 10.1097/GIM.0b013e3182088158. Genet Med. 2011. PMID: 21173700
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