Colorado PROFILES, The Colorado Clinical and Translational Sciences Institute (CCTSI)
Keywords
Last Name
Institution

Contact Us
If you have any questions or feedback please contact us.

Connection

Curtis Coughlin II to DNA Mutational Analysis

This is a "connection" page, showing publications Curtis Coughlin II has written about DNA Mutational Analysis.

 
Connection Strength
 
 
 
0.301
 
  1. Coughlin CR, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet. 2015 Aug; 52(8):532-40.
    View in: PubMed
    Score: 0.114
  2. Coughlin CR, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J. Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency. Mol Genet Metab. 2010 Jul; 100(3):296-9.
    View in: PubMed
    Score: 0.081
  3. Coughlin CR, Ficicioglu C. Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2010 Dec; 33 Suppl 3:S129-31.
    View in: PubMed
    Score: 0.080
  4. Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet. 2013 Sep 05; 93(3):506-14.
    View in: PubMed
    Score: 0.026
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

Copyright © 2024 The Regents of the University of Colorado, a body corporate. All rights reserved. (Harvard PROFILES RNS software version: 2.11.1)