Developmental validation of the PowerPlex® Fusion System for analysis of casework and reference samples: A 24-locus multiplex for new database standards
Oostdik, Kathryn, Lenz, Kristy, Nye, Jeffrey, Schelling, Kristin, Yet, Donald, Bruski, Scott, Strong, Joshua, Buchanan, Clint, Sutton, Joel, Linner, Jessica, Frazier, Nicole, Young, Hays, Matthies, Learden, Sage, Amber, Hahn, Jeff, Wells, Regina, Williams, Natasha, Price, Monica, Koehler, Jody, Staples, Melisa, Swango, Katie L, Hill, Carolyn, Oyerly, Karen, Duke, Wendy, Katzilierakis, Lesley, Ensenberger, Martin G, Bourdeau, Jeanne M, Sprecher, Cynthia J, Krenke, Benjamin, Storts, Douglas R
Published in Forensic science international : genetics (01.09.2014)
Published in Forensic science international : genetics (01.09.2014)
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A quantitative PCR assay for the assessment of DNA degradation in forensic samples
Swango, Katie L., Timken, Mark D., Chong, Mavis Date, Buoncristiani, Martin R.
Published in Forensic science international (20.04.2006)
Published in Forensic science international (20.04.2006)
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A quadruplex real-time qPCR assay for the simultaneous assessment of total human DNA, human male DNA, DNA degradation and the presence of PCR inhibitors in forensic samples: A diagnostic tool for STR typing
Hudlow, William R, Chong, Mavis Date, Swango, Katie L, Timken, Mark D, Buoncristiani, Martin R
Published in Forensic science international : genetics (01.03.2008)
Published in Forensic science international : genetics (01.03.2008)
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A duplex real-time qPCR assay for the quantification of human nuclear and mitochondrial DNA in forensic samples: implications for quantifying DNA in degraded samples
Timken, Mark D, Swango, Katie L, Orrego, Cristián, Buoncristiani, Martin R
Published in Journal of forensic sciences (01.09.2005)
Published in Journal of forensic sciences (01.09.2005)
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Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations
Blanton, Susan Halloran, Pandya, Arti, Landa, Barbara L., Javaheri, Razieh, Xia, Xia-Juan, Nance, Walter E., Pomponio, Robert J., Norrgard, Karen J., Swango, Katie L., Demirkol, Mübeccel, Gülden, Hüner, Coskun, Turgay, Tokatli, Aysegül, Ozalp, Imran, Wolf, Barry
Published in Human heredity (01.03.2000)
Published in Human heredity (01.03.2000)
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Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene
SWANGO, K. L, DEMIRKOL, M, HÜNER, G, PRONICKA, E, SYKUT-CEGIELSKA, J, SCHULZE, A, WOLF, B
Published in Human genetics (01.05.1998)
Published in Human genetics (01.05.1998)
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Double mutation (A171T) and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States
Norrgard, Karen J, Pomponio, Robert J, Swango, Katie L, Hymes, Jeanne, Reynolds, Thomas, Buck, Gregory A, Wolf, Barry
Published in Human mutation (01.01.1998)
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Published in Human mutation (01.01.1998)
Journal Article
Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States
Norrgard, Karen J., Pomponio, Robert J., Swango, Katie L., Hymes, Jeanne, Reynolds, Thomas, Buck, Gregory A., Wolf, Barry
Published in Human mutation (1998)
Published in Human mutation (1998)
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Mutation (Q456H) Is the Most Common Cause of Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States
Norrgard, Karen J., Pomponio, Robert J., Swango, Katie L., Hymes, Jeanne, Reynolds, Thomas R., Buck, Gregory A., Wolf, Barry
Published in Biochemical and molecular medicine (01.06.1997)
Published in Biochemical and molecular medicine (01.06.1997)
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