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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 2 |
2020 | 2 |
2024 | 0 |
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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proc Natl Acad Sci U S A. 2020 Feb 11;117(6):3053-3062. doi: 10.1073/pnas.1909378117. Epub 2020 Jan 24.
Proc Natl Acad Sci U S A. 2020.
PMID: 31980526
Free PMC article.
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
Ferdinandusse S, Te Brinke H, Ruiter JPN, Haasjes J, Oostheim W, van Lenthe H, IJlst L, Ebberink MS, Wanders RJA, Vaz FM, Waterham HR.
Ferdinandusse S, et al.
Hum Mutat. 2019 Oct;40(10):1899-1904. doi: 10.1002/humu.23839. Epub 2019 Jul 3.
Hum Mutat. 2019.
PMID: 31187905
Free PMC article.
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Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.
Verbeeten KC, Lamhonwah AM, Bulman D, Faghfoury H, Chakraborty P, Tein I, Geraghty MT.
Verbeeten KC, et al.
Mol Genet Metab. 2020 Mar;129(3):213-218. doi: 10.1016/j.ymgme.2019.12.006. Epub 2019 Dec 10.
Mol Genet Metab. 2020.
PMID: 31864849
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