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Haematologica|October 30, 2020
Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalitiesCaroline Scott, Damien J Downes, Jill M Brown, et al.British Journal of Haematology|July 20, 2016
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemiasNoémi B A Roy, Edward A Wilson, Shirley Henderson, et al.Journal of Medical Genetics|June 11, 2020
Genetic and functional insights into CDA-I prevalence and pathogenesisAude-Anais Olijnik, Noémi B A Roy, Caroline Scott, et al.British Journal of Haematology|May 29, 2024
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variantsVeysel Gök, Göksel Leblebisatan, Dilek Gürlek Gökçebay, et al.Nature|June 26, 2020
Whole-genome sequencing of patients with rare diseases in a national health systemErnest Turro, William J Astle, Karyn Megy, et al.Orphanet Journal of Rare Diseases|April 16, 2025
COVID- 19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNetPablo Velasco Puyo, Soteroula Christou, Saveria Campisi, et al.The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.Pageof 4