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Curtis Coughlin II to Heterozygote

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

 
Connection Strength
 
 
 
0.244
 
  1. Coughlin CR, Swanson MA, Spector EB, Kronquist KE, Van Hove JLK. Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene. Pediatr Neurol. 2018 02; 79:e1.
    View in: PubMed
    Score: 0.139
  2. Reyes-Nava NG, Yu HC, Coughlin CR, Shaikh TH, Quintana AM. Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish. Biol Open. 2020 04 13; 9(4).
    View in: PubMed
    Score: 0.042
  3. Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grunewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. J Inherit Metab Dis. 2017 05; 40(3):423-431.
    View in: PubMed
    Score: 0.033
  4. Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis. 2015 Jun 18; 10:79.
    View in: PubMed
    Score: 0.030
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.

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