Kết quả tìm kiếm - Peter Diakumis

  • Đang hiển thị 1 - 4 kết quả của 4
Tinh chỉnh kết quả
  1. 1
    Clonal multi-omics reveals Bcor as a negative regulator of emergency dendritic cell development

    Clonal multi-omics reveals Bcor as a negative regulator of emergency dendritic cell development Bằng Luyi Tian, Sara Tomei, Jaring Schreuder, Tom Weber, Daniela Amann‐Zalcenstein, Dawn Lin, Jessica Tran, Cindy Audiger, Mathew Chu, Andrew Jarratt, Tracy A. Willson, Adrienne A. Hilton, Ee Shan Pang, Timothy Patton, Madison J. Kelly, Shian Su, Quentin Gouil, Peter Diakumis, Melanie Bahlo, Tobias Sargeant, Lev M. Kats, Philip D. Hodgkin, Meredith O’Keeffe, Ashley P. Ng, Matthew E. Ritchie, Shalin H. Naik

    Được phát hành 2021
    lấy văn bản lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  2. 2
    Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

    Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype Bằng Charlotte L. Alston, Alison G. Compton, Luke E. Formosa, Valentina Strecker, Monika Oláhová, Tobias B. Haack, Joél Smet, Katrien Stouffs, Peter Diakumis, Elżbieta Ciara, David Cassiman, Nadine Romain, John W. Yarham, Langping He, Boél De Paepe, Arnaud Vanlander, Sara Seneca, René G. Feichtinger, Rafał Płoski, Dariusz Rokicki, Ewa Pronicka, Ronald G. Haller, Johan L.K. Van Hove, Melanie Bahlo, Johannes A. Mayr, Rudy Van Coster, Holger Prokisch, Ilka Wittig, Michael T. Ryan, David R. Thorburn, Robert W. Taylor

    Được phát hành 2016
    lấy văn bản lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  3. 3
    Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

    Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS Bằng Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L. M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew Chancellor, Phillip D. Cremer, Martin B. Delatycki, Brent L. Fogel, Anna Hackett, G. Michael Halmágyi, Solange Kapetanovic, Anthony E. Lang, Stuart Mossman, Weiyi Mu, Peter Patrikios, Susan Perlman, Ian Rosemergy, Elsdon Storey, Shaun R. D. Watson, Michael A. Wilson, David S. Zee, David Valle, David J. Amor, Melanie Bahlo, Paul J. Lockhart

    Được phát hành 2019
    lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  4. 4
    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance Bằng Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Hákon Hákonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, D.W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff

    Được phát hành 2014
    lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:

Công cụ tìm kiếm: