Showing results (81-90 of 94) with videos related to

Sort By:
Pageof 10
Blood|May 16, 2014
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia familiesLisa Mirabello, Elizabeth R Macari, Lea Jessop, et al.
Nature|May 24, 2011
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cellsLuis F Z Batista, Matthew F Pech, Franklin L Zhong, et al.
Haematologica|April 4, 2020
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35AMatthew D Gianferante, Marcin W Wlodarski, Evangelia Atsidaftos, et al.
Plos Genetics|September 7, 2013
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndromeBari J Ballew, Vijai Joseph, Saurav De, et al.
Medrxiv : the Preprint Server for Health Sciences|June 29, 2026
Fanconi Anemia as a Window into Premalignant Field Cancerization of the Oral MucosaTamar Berger, Frank X Donovan, Yu-Chien Lin, et al.
The Journal of Pediatrics|September 24, 2020
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology DisordersRyan W Himes, Eric H Chiou, Karen Queliza, et al.
NPJ Genomic Medicine|June 9, 2026
Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome InactivationBenilde García-de-Teresa, Tianna Zhao, Consuelo Salas-Labadía, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|June 12, 2013
Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenitaShahinaz M Gadalla, Carmem Sales-Bonfim, Jeanette Carreras, et al.
Hepatology Communications|June 19, 2024
Liver disease and transplantation in telomere biology disorders: An international multicenter cohortYunZu Michele Wang, Batul Kaj-Carbaidwala, Adam Lane, et al.
Blood|December 21, 2022
Differential diagnosis of bone marrow failure syndromes guided by machine learningFernanda Gutierrez-Rodrigues, Eric Munger, Xiaoyang Ma, et al.
Pageof 10