Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management
Clarke, Lorne A., MD, CM, FRCPC, FCCMG, Atherton, Andrea M., MS, CGC, Burton, Barbara K., MD, FAAP, FACMG, Day-Salvatore, Debra L., MD, PhD, FAAP, FACMG, Kaplan, Paige, MBBCh, FRCPC, FCCMG, FAAP, FACMG, Leslie, Nancy D., MD, Scott, C. Ronald, MD, Stockton, David W., MD, FACMG, Thomas, Janet A., MD, FAAP, FACMG, Muenzer, Joseph, MD, PhD
Published in The Journal of pediatrics (01.03.2017)
Published in The Journal of pediatrics (01.03.2017)
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Journal Article
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder
Werren, Elizabeth A., Guxholli, Alba, Jones, Natasha, Wagner, Matias, Hannibal, Iris, Granadillo, Jorge L., Tyndall, Amanda V., Moccia, Amanda, Kuehl, Ryan, Levandoski, Kristin M., Day-Salvatore, Debra L., Wheeler, Marsha, Chong, Jessica X., Bamshad, Michael J., Innes, A. Micheil, Pierson, Tyler Mark, Mackay, Joel P., Bielas, Stephanie L., Martin, Donna M.
Published in HGG advances (13.07.2023)
Published in HGG advances (13.07.2023)
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Duarte (DG) galactosemia: A pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening
Ficicioglu, Can, Thomas, Nina, Yager, Claire, Gallagher, Paul R., Hussa, Christie, Mattie, Andrea, Day-Salvatore, Debra L., Forbes, Brian J.
Published in Molecular genetics and metabolism (01.12.2008)
Published in Molecular genetics and metabolism (01.12.2008)
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Journal Article
Cost-benefit analysis of prenatal diagnosis for down syndrome using the British or the American approach
Vintzileos, Anthony M, Ananth, Cande V, Smulian, John C, Day-Salvatore, Debra L, Beazoglou, Tryfon, Knuppel, Robert A
Published in Obstetrics and gynecology (New York. 1953) (01.04.2000)
Published in Obstetrics and gynecology (New York. 1953) (01.04.2000)
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Phase 1/2 open-label, multi-center study to assess the safety, tolerability and efficacy of a single dose of PBGM01 delivered into the cisterna magna of subjects with type 1 (early onset) and type 2a (late onset) infantile GM1 gangliosidosis
Jarnes, Jeanine R., Day-Salvatore, Debra L., Ficicioglu, Can, Hastings, Caroline, Bernard, Genevieve, Baruteau, Julien, Ezgu, Fatih, Giugliani, Roberto, Inbar-Feigenberg, Michal, Whitley, Chester B., Ni, Yan, Ballard, Victoria L., Haws, Thomas F., Weinstein, David A.
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Journal Article
Indication-specific accuracy of second-trimester genetic ultrasonography for the detection of trisomy 21
Vintzileos, Anthony M., Guzman, Edwin R., Smulian, John C., Day-Salvatore, Debra L., Knuppel, Robert A.
Published in American journal of obstetrics and gynecology (01.11.1999)
Published in American journal of obstetrics and gynecology (01.11.1999)
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Journal Article
Conference Proceeding
Cost-Benefit Analysis of Prenatal Diagnosis for Down Syndrome Using the British or the American Approach
VINTZILEOS, ANTHONY M., ANANTH, CANDE V., SMULIAN, JOHN C., DAY-SALVATORE, DEBRA L., BEAZOGLOU, TRYFON, KNUPPEL, ROBERT A.
Published in Obstetrics and gynecology (New York. 1953) (01.04.2000)
Published in Obstetrics and gynecology (New York. 1953) (01.04.2000)
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