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Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.

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Showing 1 to 5 of 5 for “"Dyskeratosis Congenita"”.

  1. Construction and initial characterization of yeast strains with Dyskeratosis congenita mutations

    Ogailan, Abeer Abdullah, University of Lethbridge. Faculty of Arts and Science2017

    lethbridge

  2. Perinnöllisen dyskeratoosin piirteet X-kromosomaalista DKC1-mutaatiota kantavilla naisilla

    Peuhkuri, SaaraHelsingin yliopisto2019

    Perinnöllinen dyskeratoosi (dyskeratosis congenita, DC) on harvinainen perinnöllinen oireyhtymä, jota aiheuttavat erilaiset mutaatiot telomeeribiologiaa säätelevissä geeneissä. Sairauden vuosittaiseksi ilmaantuvuudeksi on arvioitu 1/1 000 000. Aiheuttajamutaatioita tunnetaan tällä hetkellä …

    helsinki Repository record

  3. Suppression of telomerase component dyskerin in human haematopoietic progenitor cells

    Ali, ZaraUNSW, Sydney2017

    … and acquired haematopoietic disorders, such as dyskeratosis congenita (DC) and aplastic anaemia (AA) which currently lack effective pharmacologic treatment. Replicative deficiency of human haematopoietic progenitor cells (HPCs) has been attributed to inadequate telomere length reserve. However, …

    unsw Repository record

  4. Estimating telomere length from whole genome sequencing data

    Farmery, James Henry RoystonUniversity of Cambridge2018

    This thesis details the development of two computational tools, Telomerecat and Parabam, as well as their applications to whole genome sequencing (WGS) data. Telomerecat is a tool for estimating telomere length from WGS data. The strength of Telomerecat lies in its applicability. This applicability …

    cambridge Repository record

  5. Structural Role of Pseudouridines in the Peptidyl Transferase Center of Human 28S Ribosomal RNA

    Mart, Chris

    clemson Repository record