Works matching IS 2409515X AND DT 2021 AND VI 7 AND IP 2


Results: 12
    1

    Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020032
    By:
    • Spenger, Johannes;
    • Maier, Esther M.;
    • Wechselberger, Katharina;
    • Bauder, Florian;
    • Kocher, Melanie;
    • Sperl, Wolfgang;
    • Preisel, Martin;
    • Schiergens, Katharina A.;
    • Konstantopoulou, Vassiliki;
    • Röschinger, Wulf;
    • Häberle, Johannes;
    • Schmitt-Mechelke, Thomas;
    • Wortmann, Saskia B.;
    • Fingerhut, Ralph
    Publication type:
    Article
    2
    3

    Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020030
    By:
    • Padilla, Carmencita D.;
    • Therrell Jr., Bradford L.;
    • Alcausin, Maria Melanie Liberty B.;
    • de Castro Jr., Reynaldo C.;
    • P. Gepte, Maria Beatriz;
    • L. Reyes, Maria Elouisa;
    • Jomento, Charity M.;
    • N. Suarez, Riza Concordia;
    • Maceda, Ebner Bon G.;
    • Abarquez, Conchita G.;
    • C. Posecion, J. Edgar Winston;
    • Andal, Alma P.;
    • G. Elizaga, Anna Lea;
    • Halili-Mendoza, Bernadette C.;
    • Virginia K. Otayza, Maria Paz;
    • Hoppe, Carolyn C.
    Publication type:
    Article
    4
    5
    6
    7

    Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020026
    By:
    • Hale, Jaime E.;
    • Darras, Basil T.;
    • Swoboda, Kathryn J.;
    • Estrella, Elicia;
    • Jin Yun Helen Chen;
    • Abbott, Mary-Alice;
    • Hay, Beverly N.;
    • Kumar, Binod;
    • Counihan, Anne M.;
    • Gerstel-Thompson, Jacalyn;
    • Sahai, Inderneel;
    • Eaton, Roger B.;
    • Comeau, Anne Marie
    Publication type:
    Article
    8

    Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020025
    By:
    • Sajeev, Mona;
    • Sharon Chin;
    • Gladys Ho;
    • Bennetts, Bruce;
    • Sankaran, Bindu Parayil;
    • Gutierrez, Bea;
    • Devanapalli, Beena;
    • Tolun, Adviye Ayper;
    • Wiley, Veronica;
    • Fletcher, Janice;
    • Fuller, Maria;
    • Balasubramaniam, Shanti
    Publication type:
    Article
    9
    10

    A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020023
    By:
    • Rowe, Alexander D.;
    • Stoway, Stephanie D.;
    • Åhlman, Henrik;
    • Arora, Vaneet;
    • Caggana, Michele;
    • Fornari, Anna;
    • Hagar, Arthur;
    • Hall, Patricia L.;
    • Marquardt, Gregg C.;
    • Miller, Bobby J.;
    • Nixon, Christopher;
    • Norgan, Andrew P.;
    • Orsini, Joseph J.;
    • Pettersen, Rolf D.;
    • Piazza, Amy L.;
    • Schubauer, Neil R.;
    • Smith, Amy C.;
    • Hao Tang;
    • Tavakoli, Norma P.;
    • Sainan Wei
    Publication type:
    Article
    11
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