Works matching AU Franklin, Catherine


Results: 17
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    Response to Letter to the Editor by Palffy and Ghaziuddin.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1470, doi. 10.1002/ajmg.a.63116
    By:
    • Santoro, Stephanie L.;
    • Baumer, Nicole T.;
    • Cornacchia, Michelle;
    • Franklin, Catherine;
    • Hart, Sarah J.;
    • Haugen, Kelsey;
    • Hojlo, Margaret A.;
    • Horick, Nora;
    • Kishnani, Priya S.;
    • Krell, Kavita;
    • McCormick, Andrew;
    • Milliken, Anna L.;
    • Oreskovic, Nicolas M.;
    • Pawlowski, Katherine G.;
    • Sargado, Sabrina;
    • Torres, Amy;
    • Valentini, Diletta;
    • Vellody, Kishore;
    • Skotko, Brian G.
    Publication type:
    Article
    3

    Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 813, doi. 10.1002/ajmg.a.63088
    By:
    • Oreskovic, Nicolas M.;
    • Baumer, Nicole T.;
    • Di Camillo, Chiara;
    • Cornachia, Michelle;
    • Franklin, Catherine;
    • Hart, Sarah J.;
    • Kishnani, Priya S.;
    • McCormick, Andrew;
    • Milliken, Anna L.;
    • Patsiogiannis, Vasiliki;
    • Pawlowski, Katherine G.;
    • Santoro, Stephanie L.;
    • Sargado, Sabrina;
    • Scoppola, Vittorio;
    • Torres, Amy;
    • Valentini, Diletta;
    • Vellody, Kishore;
    • Villani, Alberto;
    • Skotko, Brian G.
    Publication type:
    Article
    4

    Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3049, doi. 10.1002/ajmg.a.62922
    By:
    • Santoro, Stephanie L.;
    • Baumer, Nicole T.;
    • Cornacchia, Michelle;
    • Franklin, Catherine;
    • Hart, Sarah J.;
    • Haugen, Kelsey;
    • Hojlo, Margaret A.;
    • Horick, Nora;
    • Kishnani, Priya S.;
    • Krell, Kavita;
    • McCormick, Andrew;
    • Milliken, Anna L.;
    • Oreskovic, Nicolas M.;
    • Pawlowski, Katherine G.;
    • Sargado, Sabrina;
    • Torres, Amy;
    • Valentini, Diletta;
    • Vellody, Kishore;
    • Skotko, Brian G.
    Publication type:
    Article
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    Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation.

    Published in:
    Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1485306
    By:
    • Ramakrishnan, Rema;
    • Mallinson, Corinne;
    • Hardy, Steven;
    • Broughan, Jennifer;
    • Blyth, Maisie;
    • Melis, Gabriella;
    • Franklin, Catherine;
    • Hill, Melissa;
    • Mellis, Rhiannon;
    • Wu, Wing Han;
    • Allen, Stephanie;
    • Chitty, Lyn S.;
    • Knight, Marian;
    • Armstrong, Ruth;
    • Ashraf, Tazeen;
    • Beleza-Meireles, Ana;
    • Bertoli, Marta;
    • Bownass, Lucy;
    • Campbell, Jennifer;
    • Canham, Natalie
    Publication type:
    Article
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    Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 4, p. 1034, doi. 10.1002/acn3.52023
    By:
    • Santoro, Jonathan D.;
    • Khoshnood, Mellad M.;
    • Jafarpour, Saba;
    • Nguyen, Lina;
    • Boyd, Natalie K.;
    • Vogel, Benjamin N.;
    • Kammeyer, Ryan;
    • Patel, Lina;
    • Manning, Melanie A.;
    • Rachubinski, Angela L.;
    • Filipink, Robyn A.;
    • Baumer, Nicole T.;
    • Santoro, Stephanie L.;
    • Franklin, Catherine;
    • Tamrazi, Benita;
    • Yeom, Kristen W.;
    • Worley, Gordon;
    • Espinosa, Joaquin M.;
    • Rafii, Michael S.
    Publication type:
    Article
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