全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Elizna M. Schoeman , Francois H. Van Der Westhuizen ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Chronic Fatigue Syndrome (CFS) is a prevalent debilitating condition that affects approximately 250,000 people in the UK. There is growing interest in the role of mitochondrial function and mitochondrial DNA (mtDNA) variation in CFS. It is now known that fatigue is common and oft...
作者:... Andrew C. Perkins , Robert L. Flower , Elizna M. Schoeman
来源:[J].Transfusion Medicine Reviews(IF 3.759), 2019, Vol.33 (2), pp.111-117Elsevier
摘要:Abstract(#br)Erythroid-specific Krüppel-like factor 1, or KLF1, is an integral transcriptional activator for erythropoiesis. Genetic variants within KLF1 can result in a range of erythropoietic clinical phenotypes from benign to significant. The In(Lu) phenotype refers to ch...
作者:Elizna M. Schoeman , Genghis H. Lopez ...
来源:[J].Transfusion(IF 3.526), 2017, Vol.57 (4), pp.1078-1088Wiley
摘要:BACKGROUND(#br)Blood group single nucleotide polymorphism genotyping probes for a limited range of polymorphisms. This study investigated whether massively parallel sequencing (also known as next‐generation sequencing), with a targeted exome strategy, provides an extended bl...
作者:Elizna M. Schoeman , Glenda M. Millard ...
来源:[J].Transfusion(IF 3.526), 2016, Vol.56 (9), pp.2322-2330Wiley
摘要:BACKGROUND(#br)Blood donors whose red blood cells (RBCs) exhibit a partial RhD phenotype, lacking some D epitopes, present as D+ in routine screening. Such phenotypes can exhibit low‐frequency antigens (LFAs) of clinical significance. The aim of this study was to describe th...
作者:Elizna M. Schoeman , Stacy A. Scott ...
来源:[J].Transfusion(IF 3.526), 2018, Vol.58 (3), pp.685-691Wiley
摘要:BACKGROUND(#br)The RhD blood group antigen is extremely polymorphic and the DEL phenotype represents one such class of polymorphisms. The DEL phenotype prevalent in East Asian populations arises from a synonymous substitution defined as RHD*1227A . However, initially, based ...
作者:Elizna M. Schoeman , Assia Moussa ...
来源:[J].Transfusion(IF 3.526), 2018, Vol.58 (10), pp.2414-2420Wiley
摘要:INTRODUCTION(#br)KLF1 is an essential transcriptional activator that drives erythropoiesis. KLF1 variants can result in the Inhibitor of Lutheran, or In(Lu), phenotype where red blood cells (RBCs) have reduced BCAM (LU) and CD44 (IN). Other RBC surface molecules also have ch...
作者:Elizna M. Schoeman , Robert L. Flower ...
来源:[J].Transfusion(IF 3.526), 2018, Vol.58 (10), pp.2260-2264Wiley
摘要:BACKGROUND(#br)RhD DEL variants may show complete or partial expression of RhD epitopes. There have been only rare reports of anti‐D causing hemolytic disease of the fetus and newborn (HDFN) in this context. We report a case of severe HDFN associated with a recently describe...
作者:Catherine A. Hyland , Eileen V. Roulis , Elizna M. Schoeman
来源:[J].British Journal of Haematology(IF 4.942), 2019, Vol.184 (6), pp.897-911Wiley
摘要:Summary(#br)Blood group serology and single nucleotide polymorphism‐based genotyping platforms are accurate but do not provide a comprehensive cover for all 36 blood group systems and do not cover the antigen diversity observed among population groups. This review examines t...

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