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Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency.
Liver Transpl. 2008 Oct;14(10):1480-5. doi: 10.1002/lt.21556.
Liver Transpl. 2008.
PMID: 18825706
Free article.
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.
Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA.
Tadiboyina VT, et al. Among authors: rupar a.
Am J Med Genet A. 2005 Jun 15;135(3):289-91. doi: 10.1002/ajmg.a.30748.
Am J Med Genet A. 2005.
PMID: 15887277
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Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
Schenkel LC, Kerkhof J, Stuart A, Reilly J, Eng B, Woodside C, Levstik A, Howlett CJ, Rupar AC, Knoll JHM, Ainsworth P, Waye JS, Sadikovic B.
Schenkel LC, et al. Among authors: rupar ac.
J Mol Diagn. 2016 Sep;18(5):657-667. doi: 10.1016/j.jmoldx.2016.04.002. Epub 2016 Jul 2.
J Mol Diagn. 2016.
PMID: 27376475
Free article.
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Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?
Waters PJ, Khashu M, Lillquist Y, Senger C, Mattman A, Demos M, Setchell K, Rupar A, Scott P, Blau N, Vallance HD.
Waters PJ, et al. Among authors: rupar a.
Mol Genet Metab. 2005 Dec;86 Suppl 1:S148-52. doi: 10.1016/j.ymgme.2005.07.032. Epub 2005 Sep 21.
Mol Genet Metab. 2005.
PMID: 16182582
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Neuropathy in IgM lambda paraproteinemia. Immunoreactivity to neural proteins and chondroitin sulfate.
Yee WC, Hahn AF, Hearn SA, Rupar AR.
Yee WC, et al. Among authors: rupar ar.
Acta Neuropathol. 1989;78(1):57-64. doi: 10.1007/BF00687403.
Acta Neuropathol. 1989.
PMID: 2544072
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