 Connection
Ronald Sokol to Mutation
This is a "connection" page, showing publications Ronald Sokol has written about Mutation.
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0.402 |
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Larson AA, Baker PR, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA. TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of a-dystroglycan and muscular dystrophy. Skelet Muscle. 2018 05 31; 8(1):17.
Score: 0.076
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Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G, Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet. 2014 Apr; 46(4):326-8.
Score: 0.057
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Lee WS, Sokol RJ. Mitochondrial hepatopathies: advances in genetics, therapeutic approaches, and outcomes. J Pediatr. 2013 Oct; 163(4):942-8.
Score: 0.054
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Lee WS, Sokol RJ. Mitochondrial hepatopathies: advances in genetics and pathogenesis. Hepatology. 2007 Jun; 45(6):1555-65.
Score: 0.036
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Mack CL, Sokol RJ. Unraveling the pathogenesis and etiology of biliary atresia. Pediatr Res. 2005 May; 57(5 Pt 2):87R-94R.
Score: 0.031
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Gillis LA, Sokol RJ. Gastrointestinal manifestations of mitochondrial disease. Gastroenterol Clin North Am. 2003 Sep; 32(3):789-817, v.
Score: 0.027
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Hertel PM, Bull LN, Thompson RJ, Goodrich NP, Ye W, Magee JC, Squires RH, Bass LM, Heubi JE, Kim GE, Ranganathan S, Schwarz KB, Bozic MA, Horslen SP, Clifton MS, Turmelle YP, Suchy FJ, Superina RA, Wang KS, Loomes KM, Kamath BM, Sokol RJ, Shneider BL. Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis. J Pediatr Gastroenterol Nutr. 2021 08 01; 73(2):169-177.
Score: 0.024
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Karpen SJ, Kamath BM, Alexander JJ, Ichetovkin I, Rosenthal P, Sokol RJ, Dunn S, Thompson RJ, Heubi JE. Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults. J Pediatr Gastroenterol Nutr. 2021 05 01; 72(5):654-660.
Score: 0.023
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Sokol RJ. Alagille syndrome: A nutritional niche for Notch. J Pediatr. 1999 Feb; 134(2):136-8.
Score: 0.020
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Setchell KD, Schwarz M, O'Connell NC, Lund EG, Davis DL, Lathe R, Thompson HR, Weslie Tyson R, Sokol RJ, Russell DW. Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. J Clin Invest. 1998 Nov 01; 102(9):1690-703.
Score: 0.020
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Burwinkel B, Amat L, Gray RG, Matsuo N, Muroya K, Narisawa K, Sokol RJ, Vilaseca MA, Kilimann MW. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Hum Genet. 1998 Apr; 102(4):423-9.
Score: 0.019
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Huang LS, Kayden H, Sokol RJ, Breslow JL. ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia. J Lipid Res. 1991 Aug; 32(8):1341-8.
Score: 0.012
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Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet. 1995 Feb; 9(2):141-5.
Score: 0.004
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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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