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Blood|August 5, 2016
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemiaDaniel A Lichtenstein, Andrew W Crispin, Anoop K Sendamarai, et al.Blood|April 5, 2013
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)Daniel H Wiseman, Alison May, Stephen Jolles, et al.American Journal of Hematology|October 30, 2013
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutationsDean R Campagna, Charlotte I de Bie, Klaus Schmitz-Abe, et al.Human Mutation|July 23, 2021
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literatureMatthew M Heeney, Simon Berhe, Dean R Campagna, et al.Haematologica|July 21, 2018
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2Lisa G Riley, Matthew M Heeney, Joëlle Rudinger-Thirion, et al.Blood|October 23, 2015
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9Klaus Schmitz-Abe, Szymon J Ciesielski, Paul J Schmidt, et al.Blood|September 7, 2014
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)Pranesh K Chakraborty, Klaus Schmitz-Abe, Erin K Kennedy, et al.Diabetes Care|February 4, 2012
Global prevalence and major risk factors of diabetic retinopathyJoanne W Y Yau, Sophie L Rogers, Ryo Kawasaki, et al.Pageof 25