Analysis of age-related changes in psychosine metabolism in the human brain von Marshall, Michael S, Jakubauskas, Benas, Bogue, Wil, Stoskute, Monika, Hauck, Zane, Rue, Emily, Nichols, Matthew, DiAntonio, Lisa L, van Breemen, Richard B, Kordower, Jeffrey H, Saavedra-Matiz, Carlos A, Bongarzone, Ernesto R

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Cost-effective and scalable DNA extraction method from dried blood spots von Saavedra-Matiz, Carlos A, Isabelle, Jason T, Biski, Chad K, Duva, Salvatore J, Sweeney, Melissa L, Parker, April L, Young, Allison J, Diantonio, Lisa L, Krein, Lea M, Nichols, Matthew J, Caggana, Michele

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Prevalence of a Loss-of-Function Mutation in the Proton-Coupled Folate Transporter Gene ( PCFT-SLC46A1 ) Causing Hereditary Folate Malabsorption in Puerto Rico von Mahadeo, Kris M., MD, Diop-Bove, Ndeye, PhD, Ramirez, Sonia I., MT, Cadilla, Carmen L., PhD, Rivera, Enid, MD, Martin, Madelena, MD, Lerner, Norma B., MD, MPH, DiAntonio, Lisa, MS, Duva, Salvatore, Santiago-Borrero, Pedro J., MD, Goldman, I. David, MD

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The Effects of Chemical and Heat Maceration Techniques on the Recovery of Nuclear and Mitochondrial DNA from Bone von Steadman, Dawnie Wolfe, DiAntonio, Lisa L., Wilson, Jeremy J., Sheridan, Kevin E., Tammariello, Steven P.

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Newborn Screening for SCID in New York State: Experience from the First Two Years von Vogel, Beth H., Bonagura, Vincent, Weinberg, Geoffrey A., Ballow, Mark, Isabelle, Jason, DiAntonio, Lisa, Parker, April, Young, Allison, Cunningham-Rundles, Charlotte, Fong, Chin-To, Celestin, Jocelyn, Lehman, Heather, Rubinstein, Arye, Siegel, Subhadra, Weiner, Leonard, Saavedra-Matiz, Carlos, Kay, Denise M., Caggana, Michele

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Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease von Lin, Na, Huang, Jingyu, Violante, Sara, Orsini, Joseph J, Caggana, Michele, Hughes, Erin E, Stevens, Colleen, DiAntonio, Lisa, Chieh Liao, Hsuan, Hong, Xinying, Ghomashchi, Farideh, Babu Kumar, Arun, Zhou, Hui, Kornreich, Ruth, Wasserstein, Melissa, Gelb, Michael H, Yu, Chunli

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Development of Genomic Reference Materials for Cystic Fibrosis Genetic Testing von Pratt, Victoria M, Caggana, Michele, Bridges, Christina, Buller, Arlene M, DiAntonio, Lisa, Highsmith, W. Edward, Holtegaard, Leonard M, Muralidharan, Kasinathan, Rohlfs, Elizabeth M, Tarleton, Jack, Toji, Lorraine, Barker, Shannon D, Kalman, Lisa V

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