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Blood, ISSN 0006-4971, 11/2012, Volume 120, Issue 18, pp. 3635 - 3646
Journal Article
Blood, ISSN 0006-4971, 08/2013, Volume 122, Issue 6, pp. 912 - 921
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, p. e0127414
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized by the presence of short telomeres at presentation. Mutations in ten... 
DYSKERIN | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | RIBONUCLEOPROTEINS | SELF-RENEWAL | MICE | MUTATIONS | TRANSLATION | CANCER | LGR5 | SMALL NUCLEOLAR RNA | Induced Pluripotent Stem Cells - pathology | Humans | Cells, Cultured | Gene Expression Regulation | Ribosomes - metabolism | Male | Dyskeratosis Congenita - genetics | Telomere - pathology | Animals | Cell Cycle Proteins - genetics | Dyskeratosis Congenita - pathology | Female | Telomerase - metabolism | Dyskeratosis Congenita - metabolism | Mice | Mutation | Nuclear Proteins - genetics | Wnt Signaling Pathway | Induced Pluripotent Stem Cells - metabolism | Telomeres | Gene mutations | Epithelial cells | Abnormalities | Development and progression | Genetic aspects | Properties | Gene expression | Identification and classification | Health aspects | Pediatrics | Animal models | Senescence | Wnt protein | Laboratories | Pathogenesis | Pseudouridylation | Stem cell transplantation | Biosynthesis | Defects | Allografts | Animal tissues | Bone marrow | Fibroblasts | Evolution | RNA processing | Telomerase | Chromosomes | Deoxyribonucleic acid--DNA | Dyskeratosis | Hematology | Anemia | rRNA | Cell division | Maintenance | Ribonucleic acid--RNA | Patients | Signaling | Stem cells | Skin | Pluripotency | Cancer | RNA | Deoxyribonucleic acid | Ribonucleic acid | DNA
Journal Article
Journal Article
Cancer Genetics, ISSN 2210-7762, 2015, Volume 208, Issue 4, pp. 115 - 128
Journal Article
Blood, ISSN 0006-4971, 11/2013, Volume 122, Issue 21, pp. 1224 - 1224
Abstract DBA is an inherited bone marrow failure syndrome that usually presents in the first year of life with red cell aplasia and variable developmental... 
Journal Article
Journal Article
Molecular Therapy - Methods & Clinical Development, ISSN 2329-0501, 2015, Volume 2, p. 15029
Adeno-associated virus (AAV) has become one of the most promising vectors in gene transfer in the last 10 years with successful translation to clinical trials... 
MEDICINE, RESEARCH & EXPERIMENTAL
Journal Article
Blood, ISSN 0006-4971, 11/2013, Volume 122, Issue 21, pp. 3710 - 3710
Abstract Bone marrow failure syndromes (BMFS) are a diverse group of rare life-threatening blood disorders characterized by inadequate hematopoiesis, clonal... 
Journal Article