Works matching DE "NIJMEGEN breakage syndrome"

Results: 29
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    Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 2, doi. 10.3390/ijns10010002
    By:
    • Cantley, Nathan W. P.;
    • Barski, Robert;
    • Kemp, Helena;
    • Hogg, Sarah L.;
    • Wu, Hoi Yee Teresa;
    • Bowron, Ann;
    • Collingwood, Catherine;
    • Cundick, Jennifer;
    • Hart, Claire;
    • Shakespeare, Lynette;
    • Preece, Mary Anne;
    • Aitkenhead, Helen;
    • Smith, Sarah;
    • Carling, Rachel S.;
    • Moat, Stuart J.
    Publication type:
    Article
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    Prospective study of a cohort of russian nijmegen Breakage syndrome Patients Demonstrating Predictive Value of low Kappa-Deleting recombination excision circle (Krec) numbers and Beneficial effect of hematopoietic stem cell Transplantation (hscT).

    Published in:
    Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.00807
    By:
    • Deripapa, Elena;
    • Balashov, Dmitry;
    • Rodina, Yulia;
    • Laberko, Alexandra;
    • Myakova, Natalya;
    • Davydova, Nataliia V.;
    • Gordukova, Maria A.;
    • Abramov, Dmitrii S.;
    • Pay, Galina V.;
    • Shelikhova, Larisa;
    • Prodeus, Andrey P.;
    • Maschan, Mikhail A.;
    • Maschan, Alexey A.;
    • Shcherbina, Anna
    Publication type:
    Article
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    The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

    Published in:
    PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167984
    By:
    • Seemanova, Eva;
    • Varon, Raymonda;
    • Vejvalka, Jan;
    • Jarolim, Petr;
    • Seeman, Pavel;
    • Chrzanowska, Krystyna H.;
    • Digweed, Martin;
    • Resnick, Igor;
    • Kremensky, Ivo;
    • Saar, Kathrin;
    • Hoffmann, Katrin;
    • Dutrannoy, Véronique;
    • Karbasiyan, Mohsen;
    • Ghani, Mehdi;
    • Barić, Ivo;
    • Tekin, Mustafa;
    • Kovacs, Peter;
    • Krawczak, Michael;
    • Reis, André;
    • Sperling, Karl
    Publication type:
    Article
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    Microcephaly & the Zika Virus.

    Published in:
    Dialog: Journal of the Texas Educational Diagnosticians Association, 2017, v. 46, n. 1, p. 17
    By:
    • Hausman, Ralph M.;
    • Sorgi, R. F.
    Publication type:
    Article
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    Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.

    Published in:
    Journal of Clinical Immunology, 2015, v. 35, n. 6, p. 538, doi. 10.1007/s10875-015-0186-9
    By:
    • Wolska-Kuśnierz, Beata;
    • Gregorek, Hanna;
    • Chrzanowska, Krystyna;
    • Piątosa, Barbara;
    • Pietrucha, Barbara;
    • Heropolitańska-Pliszka, Edyta;
    • Pac, Małgorzata;
    • Klaudel-Dreszler, Maja;
    • Kostyuchenko, Larysa;
    • Pasic, Srdjan;
    • Marodi, Laszlo;
    • Belohradsky, Bernd;
    • Čižnár, Peter;
    • Shcherbina, Anna;
    • Kilic, Sara;
    • Baumann, Ulrich;
    • Seidel, Markus;
    • Gennery, Andrew;
    • Syczewska, Małgorzata;
    • Mikołuć, Bożena
    Publication type:
    Article
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