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Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
Renard M, Holm T, Veith R, Callewaert BL, Adès LC, Baspinar O, Pickart A, Dasouki M, Hoyer J, Rauch A, Trapane P, Earing MG, Coucke PJ, Sakai LY, Dietz HC, De Paepe AM, Loeys BL. Renard M, et al. Among authors: veith r. Eur J Hum Genet. 2010 Aug;18(8):895-901. doi: 10.1038/ejhg.2010.45. Epub 2010 Apr 14. Eur J Hum Genet. 2010. PMID: 20389311 Free PMC article.
A rare presentation of neonatal stridor.
Amos L, Quintero D, Veith R, Trapane P, Beste D, Gershan W. Amos L, et al. Among authors: veith r. Clin Pediatr (Phila). 2012 Mar;51(3):294-6. doi: 10.1177/0009922811398393. Epub 2011 Feb 21. Clin Pediatr (Phila). 2012. PMID: 21339253 No abstract available.
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: veith rl. Genet Med. 2011 Mar;13(3):255-62. doi: 10.1097/GIM.0b013e3182088158. Genet Med. 2011. PMID: 21173700 Free article.
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.
Bick D, Fraser PC, Gutzeit MF, Harris JM, Hambuch TM, Helbling DC, Jacob HJ, Kersten JN, Leuthner SR, May T, North PE, Prisco SZ, Schuler BA, Shimoyama M, Strong KA, Van Why SK, Veith R, Verbsky J, Weborg AM Jr, Wilk BM, Willoughby RE Jr, Worthey EA, Dimmock DP. Bick D, et al. Among authors: veith r. J Pediatr Genet. 2017 Jun;6(2):61-76. doi: 10.1055/s-0036-1593968. Epub 2016 Nov 28. J Pediatr Genet. 2017. PMID: 28496993 Free PMC article.
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
Mele C, Lemaire M, Iatropoulos P, Piras R, Bresin E, Bettoni S, Bick D, Helbling D, Veith R, Valoti E, Donadelli R, Murer L, Neunhäuserer M, Breno M, Frémeaux-Bacchi V, Lifton R, Remuzzi G, Noris M. Mele C, et al. Among authors: veith r. Clin J Am Soc Nephrol. 2015 Jun 5;10(6):1011-9. doi: 10.2215/CJN.08520814. Epub 2015 Apr 8. Clin J Am Soc Nephrol. 2015. PMID: 25854283 Free PMC article.
197 results