De novo 11q deletion including SHANK2 in a patient with global developmental delay by Marcou, Cherisse A., Studinski Jones, April L., Murphree, Marine I., Kirmani, Salman, Hoppman, Nicole L.

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SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations by Sanders, Karen, Peck, Dawn, Bentz Pino, Gisele, Studinski Jones, April, White, Amy, Gavrilov, Dimitar, Matern, Dietrich, Oglesbee, Devin, Schultz, Matthew, Tortorelli, Silvia, Hall, Patricia L.

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Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase by Turgeon, Coleman, Casas, Kari, Flanagan, Ryan, White, Amy, Peck, Dawn, Pino, Gisele Bentz, Jones, April Studinski, Gavrilov, Dimitar, Oglesbee, Devin, Schultz, Matthew J., Tortorelli, Silvia, Matern, Dietrich, Hall, Patricia L.

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Improved differentiation between Krabbe disease variants, carrier status, and pseudo deficiency by measurement of psychosine by Guenzel, Adam, Turgeon, Coleman, White, Amy, Peck, Dawn, Pino, Gessi Bentz, Jones, April Studinski, Oglesbee, Devin, Gavrilov, Dimitar, Tortorelli, Silivia, Rinaldo, Piero, Matern, Dietrich

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Comparison of tamoxifen ligands on estrogen receptor interaction with estrogen response elements by Klinge, Carolyn M., Studinski-Jones, April L., Kulakosky, Peter C., Bambara, Robert A., Hilf, Russell

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De novo 11q deletion including SHANK2 in a patient with global developmental delay by Marcou, Cherisse A, Studinski Jones, April L, Murphree, Marine I, Kirmani, Salman, Hoppman, Nicole L

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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I by Peck, Dawn S, Lacey, Jean M, White, Amy L, Pino, Gisele, Studinski, April L, Fisher, Rachel, Ahmad, Ayesha, Spencer, Linda, Viall, Sarah, Shallow, Natalie, Siemon, Amy, Hamm, J Austin, Murray, Brianna K, Jones, Kelly L, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Matern, Dietrich, Rinaldo, Piero, Tortorelli, Silvia

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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I by Peck, Dawn S, Lacey, Jean M, White, Amy L, Pino, Gisele, Studinski, April L, Fisher, Rachel, Ahmad, Ayesha, Spencer, Linda, Viall, Sarah, Shallow, Natalie, Siemon, Amy, Hamm, J Austin, Murray, Brianna K, Jones, Kelly L, Gavrilov, Dimitar, Oglesbee, Devin, Raymond, Kimiyo, Matern, Dietrich, Rinaldo, Piero, Tortorelli, Silvia

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