Works matching DE "HERMANSKY-Pudlak syndrome"


Results: 40
    1

    Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.

    Published in:
    PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194193
    By:
    • El-Chemaly, Souheil;
    • O’Brien, Kevin J.;
    • Nathan, Steven D.;
    • Weinhouse, Gerald L.;
    • Goldberg, Hilary J.;
    • Connors, Jean M.;
    • Cui, Ye;
    • Astor, Todd L.;
    • Jr.Camp, Philip C.;
    • Rosas, Ivan O.;
    • Lemma, Merte;
    • Speransky, Vladislav;
    • Merideth, Melissa A.;
    • Gahl, William A.;
    • Gochuico, Bernadette R.
    Publication type:
    Article
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    Poster Maternal Medicine.

    Published in:
    BJOG: An International Journal of Obstetrics & Gynaecology, 2016, v. 123, p. 13, doi. 10.1111/1471-0528.13987
    Publication type:
    Article
    5

    BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery.

    Published in:
    Journal of Cell Biology, 2015, v. 209, n. 4, p. 563, doi. 10.1083/jcb.201410026
    By:
    • Dennis, Megan K.;
    • Mantegazza, Adriana R.;
    • Snir, Olivia L.;
    • Tenza, Daniele;
    • Acosta-Ruiz, Amanda;
    • Delevoye, Cedric;
    • Zorger, Richard;
    • Sitaram, Anand;
    • de Jesus-Rojas, Wilfredo;
    • Ravichandran, Keerthana;
    • Rux, John;
    • Sviderskaya, Elena V.;
    • Bennett, Dorothy C.;
    • Raposo, Graça;
    • Marks, Michael S.;
    • Gangi Setty, Subba Rao
    Publication type:
    Article
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    Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

    Published in:
    PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173682
    By:
    • Stephen, Joshi;
    • Yokoyama, Tadafumi;
    • Tolman, Nathanial J.;
    • O’Brien, Kevin J.;
    • Nicoli, Elena-Raluca;
    • Brooks, Brian P.;
    • Huryn, Laryssa;
    • Titus, Steven A.;
    • Adams, David R.;
    • Chen, Dong;
    • Gahl, William A.;
    • Gochuico, Bernadette R.;
    • Malicdan, May Christine V.
    Publication type:
    Article
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    Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.

    Published in:
    British Journal of Haematology, 2017, v. 176, n. 1, p. 118, doi. 10.1111/bjh.14390
    By:
    • Gil‐Krzewska, Aleksandra;
    • Murakami, Yousuke;
    • Peruzzi, Giovanna;
    • O'Brien, Kevin J.;
    • Merideth, Melissa A.;
    • Cullinane, Andrew R.;
    • Gahl, William A.;
    • Coligan, John E.;
    • Gochuico, Bernadette R.;
    • Krzewski, Konrad
    Publication type:
    Article
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    Issue Information.

    Published in:
    Pediatric Dermatology, 2017, v. 34, n. 6, p. 633, doi. 10.1111/pde.13001
    Publication type:
    Article
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