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Year | Number of Results |
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2000 | 1 |
2002 | 1 |
2006 | 1 |
2020 | 1 |
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Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
Hum Mutat. 2006 Jul;27(7):626-32. doi: 10.1002/humu.20339.
Hum Mutat. 2006.
PMID: 16786505
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG.
Tuchman M, et al.
Hum Mutat. 2002 Feb;19(2):93-107. doi: 10.1002/humu.10035.
Hum Mutat. 2002.
PMID: 11793468
Review.
Item in Clipboard
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Roman TS, Crowley SB, Roche MI, Foreman AKM, O'Daniel JM, Seifert BA, Lee K, Brandt A, Gustafson C, DeCristo DM, Strande NT, Ramkissoon L, Milko LV, Owen P, Roy S, Xiong M, Paquin RS, Butterfield RM, Lewis MA, Souris KJ, Bailey DB Jr, Rini C, Booker JK, Powell BC, Weck KE, Powell CM, Berg JS.
Roman TS, et al.
Am J Hum Genet. 2020 Oct 1;107(4):596-611. doi: 10.1016/j.ajhg.2020.08.001. Epub 2020 Aug 26.
Am J Hum Genet. 2020.
PMID: 32853555
Free PMC article.
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In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
Lee B, Yu H, Jahoor F, O'Brien W, Beaudet AL, Reeds P.
Lee B, et al.
Proc Natl Acad Sci U S A. 2000 Jul 5;97(14):8021-6. doi: 10.1073/pnas.140082197.
Proc Natl Acad Sci U S A. 2000.
PMID: 10869432
Free PMC article.
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