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Variant Detection in 3' Exons of PMS2 Using Exome Sequencing Data.
J Mol Diagn. 2024 Sep;26(9):843-850. doi: 10.1016/j.jmoldx.2024.06.001. Epub 2024 Jun 24.
J Mol Diagn. 2024.
PMID: 38925456
Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human α-globin gene cluster.
Kipp BR, Roellinger SE, Lundquist PA, Highsmith WE, Dawson DB.
Kipp BR, et al. Among authors: roellinger se.
J Mol Diagn. 2011 Sep;13(5):549-57. doi: 10.1016/j.jmoldx.2011.04.001. Epub 2011 Jun 25.
J Mol Diagn. 2011.
PMID: 21708285
Free PMC article.
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Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability.
Perales-Clemente E, Cook AN, Evans JM, Roellinger S, Secreto F, Emmanuele V, Oglesbee D, Mootha VK, Hirano M, Schon EA, Terzic A, Nelson TJ.
Perales-Clemente E, et al.
EMBO J. 2016 Sep 15;35(18):1979-90. doi: 10.15252/embj.201694892. Epub 2016 Jul 19.
EMBO J. 2016.
PMID: 27436875
Free PMC article.
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