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Oncotarget, ISSN 1949-2553, 2015, Volume 6, Issue 16, pp. 13856 - 13857
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, p. 448
Whole-exome sequencing approach is employed for a complete identification of the biallelic mutations taking place in RTEL1. These observed mutations are shown... 
Usage | Gene mutations | Epithelial cells | Abnormalities | Exome sequencing | Causes of | Genetic aspects | Research | Diagnosis
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, p. 448
  Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in... 
Genotype & phenotype | Genetic disorders | Bone marrow | Mutation | Cells
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 448 - 453
Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which... 
DNA helicase | Dyskeratosis | Telomeres | homologous recombination | Mutation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 888 - 892
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2016, Volume 99, Issue 1, pp. 115 - 124
Journal Article
Haematologica, ISSN 0390-6078, 04/2012, Volume 97, Issue 4, pp. 524 - 528
Journal Article