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EMBO Molecular Medicine|January 25, 2023
Lack of the human choline transporter-like protein SLC44A2 causes hearing impairment and a rare red blood phenotypeBérengère Koehl, Cédric Vrignaud, Mahmoud Mikdar, et al.Blood|March 25, 2021
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disordersRomain Duval, Gaël Nicolas, Alexandra Willemetz, et al.American Journal of Human Genetics|November 9, 2010
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemiaLionel Arnaud, Carole Saison, Virginie Helias, et al.Blood|December 12, 2019
Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregationSlim Azouzi, Mahmoud Mikdar, Patricia Hermand, et al.Pageof 9