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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
Shintaku J, Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. Shintaku J, et al. Among authors: leu cs. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. J Clin Invest. 2022. PMID: 35617047 Free PMC article.
Attitudes and practices among internists concerning genetic testing.
Klitzman R, Chung W, Marder K, Shanmugham A, Chin LJ, Stark M, Leu CS, Appelbaum PS. Klitzman R, et al. Among authors: leu cs. J Genet Couns. 2013 Feb;22(1):90-100. doi: 10.1007/s10897-012-9504-z. Epub 2012 May 15. J Genet Couns. 2013. PMID: 22585186 Free PMC article.
Views of internists towards uses of PGD.
Klitzman R, Chung W, Marder K, Shanmugham A, Chin LJ, Stark M, Leu CS, Appelbaum PS. Klitzman R, et al. Among authors: leu cs. Reprod Biomed Online. 2013 Feb;26(2):142-7. doi: 10.1016/j.rbmo.2012.11.006. Epub 2012 Nov 21. Reprod Biomed Online. 2013. PMID: 23276655 Free PMC article.
146 results