Resultats de la cerca - Inderjeet Dokal

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  1. 1
    Dyskeratosis congenita in all its forms

    Dyskeratosis congenita in all its forms per Inderjeet Dokal

    Publicat 2000
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  2. 2
    Inherited bone marrow failure syndromes

    Inherited bone marrow failure syndromes per Inderjeet Dokal, Tom Vulliamy

    Publicat 2010
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    Carta
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  3. 3
    Fanconi anaemia and leukaemia – clinical and molecular aspects

    Fanconi anaemia and leukaemia – clinical and molecular aspects per Marc Tischkowitz, Inderjeet Dokal

    Publicat 2004
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  4. 4
    Dyskeratosis congenita, stem cells and telomeres

    Dyskeratosis congenita, stem cells and telomeres per Michael Kirwan, Inderjeet Dokal

    Publicat 2009
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  5. 5
    Dyskeratosis congenita: a genetic disorder of many faces

    Dyskeratosis congenita: a genetic disorder of many faces per M. Kirwan, Inderjeet Dokal

    Publicat 2007
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  6. 6
    Advances in the understanding of dyskeratosis congenita

    Advances in the understanding of dyskeratosis congenita per Amanda J. Walne, Inderjeet Dokal

    Publicat 2009
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  7. 7
    Inherited bone marrow failure in the pediatric patient

    Inherited bone marrow failure in the pediatric patient per Inderjeet Dokal, Hemanth Tummala, Tom Vulliamy

    Publicat 2022
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  8. 8
    The biology and management of dyskeratosis congenita and related disorders of telomeres

    The biology and management of dyskeratosis congenita and related disorders of telomeres per Hemanth Tummala, Amanda J. Walne, Inderjeet Dokal

    Publicat 2022
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  9. 9
    Evidence for a continuous decline in haemopoietic cell function from birth: application to evaluating bone marrow failure in children

    Evidence for a continuous decline in haemopoietic cell function from birth: application to evaluating bone marrow failure in children per Marley, Lewis, Davidson, Roberts, Inderjeet Dokal, Goldman, Gordon

    Publicat 1999
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  10. 10
    Clinical utility gene card for: Dyskeratosis congenita – update 2015

    Clinical utility gene card for: Dyskeratosis congenita – update 2015 per Inderjeet Dokal, Tom Vulliamy, Philip J. Mason, Monica Bessler

    Publicat 2014
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  11. 11
    Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

    Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita per Amanda J. Walne, Tom Vulliamy, Michael Kirwan, Vincent Plagnol, Inderjeet Dokal

    Publicat 2013
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  12. 12
    Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency

    Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency per Anna Marrone, David Stevens, Tom Vulliamy, Inderjeet Dokal, Philip J. Mason

    Publicat 2004
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  13. 13
    Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

    Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome per Amanda J. Walne, Tom Vulliamy, Richard Beswick, Michael Kirwan, Inderjeet Dokal

    Publicat 2010
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  14. 14
    TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

    TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes per Amanda J. Walne, Tom Vulliamy, Richard Beswick, Michael Kirwan, Inderjeet Dokal

    Publicat 2008
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  15. 15
    Bone marrow transplantation for β‐thalassaemia major: the UK experience in two paediatric centres

    Bone marrow transplantation for β‐thalassaemia major: the UK experience in two paediatric centres per Sarah Lawson, Irene Roberts, Persis Amrolia, Inderjeet Dokal, Richard Szydlo, Philip Darbyshire

    Publicat 2003
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  16. 16
    Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements

    Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements per Inderjeet Dokal, J Bungey, Peter J. Williamson, David Oscier, Jill Hows, Lucio Luzzatto

    Publicat 1992
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  17. 17
    Dyskeratosis Congenita (DC) Registry: identification of new features of DC

    Dyskeratosis Congenita (DC) Registry: identification of new features of DC per S. W. Knight, Tom Vulliamy, Adrian Copplestone, Éliane Gluckman, Philip J. Mason, Inderjeet Dokal

    Publicat 1998
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  18. 18
    Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC

    Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC per Tom Vulliamy, Anna Marrone, Richard Szydlo, Amanda J. Walne, Philip J. Mason, Inderjeet Dokal

    Publicat 2004
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  19. 19
    Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

    Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation per Tom Vulliamy, Anna Marrone, S. W. Knight, Amanda J. Walne, Philip J. Mason, Inderjeet Dokal

    Publicat 2005
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  20. 20
    Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

    Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita per Tom Vulliamy, Richard Beswick, Michael Kirwan, Anna Marrone, Martin Digweed, Amanda J. Walne, Inderjeet Dokal

    Publicat 2008
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