Hasil Pencarian - Amanda J Walne

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  1. 1
    Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4

    Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4 oleh Laura C. Collopy, Amanda J. Walne, Tom J. Vulliamy, Inderjeet S. Dokal

    Diterbitkan 2014-07-01
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  2. 2
    Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

    Exome sequencing identifies MPL as a causative gene in familial aplastic anemia oleh Amanda J. Walne, Arran Dokal, Vincent Plagnol, Richard Beswick, Michael Kirwan, Josu de la Fuente, Tom Vulliamy, Inderjeet Dokal

    Diterbitkan 2012-04-01
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  3. 3
    Mutations in the telomere capping complex in bone marrow failure and related syndromes

    Mutations in the telomere capping complex in bone marrow failure and related syndromes oleh Amanda J. Walne, Tanya Bhagat, Michael Kirwan, Cyril Gitiaux, Isabelle Desguerre, Norma Leonard, Elena Nogales, Tom Vulliamy, Inderjeet S. Dokal

    Diterbitkan 2013-03-01
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  4. 4
    Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

    Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis oleh Amanda J. Walne, Laura Collopy, Shirleny Cardoso, Alicia Ellison, Vincent Plagnol, Canan Albayrak, Davut Albayrak, Sara Sebnem Kilic, Turkan Patıroglu, Haluk Akar, Keith Godfrey, Tina Carter, Makia Marafie, Ajay Vora, Mikael Sundin, Thomas Vulliamy, Hemanth Tummala, Inderjeet Dokal

    Diterbitkan 2016-10-01
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  5. 5
    Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies

    Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies oleh Shirleny R. Cardoso, Alicia C.M. Ellison, Amanda J. Walne, David Cassiman, Manoj Raghavan, Bhuvan Kishore, Philip Ancliff, Carmen Rodríguez-Vigil, Bieke Dobbels, Ana Rio-Machin, Ahad F.H. Al Seraihi, Nikolas Pontikos, Hemanth Tummala, Tom Vulliamy, Inderjeet Dokal

    Diterbitkan 2017-08-01
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  6. 6
    The evolving genetic landscape of telomere biology disorder dyskeratosis congenita

    The evolving genetic landscape of telomere biology disorder dyskeratosis congenita oleh Hemanth Tummala, Amanda J Walne, Mohsin Badat, Manthan Patel, Abigail M Walne, Jenna Alnajar, Chi Ching Chow, Ibtehal Albursan, Jennifer M Frost, David Ballard, Sally Killick, Peter Szitányi, Anne M Kelly, Manoj Raghavan, Corrina Powell, Reinier Raymakers, Tony Todd, Elpis Mantadakis, Sophia Polychronopoulou, Nikolas Pontikos, Tianyi Liao, Pradeep Madapura, Upal Hossain, Tom Vulliamy, Inderjeet Dokal

    Diterbitkan 2024-08-01
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