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inheritance of a variant gene at the Kell autosomal locus. It also represents the first occasion that a person of rare blood group has been recognized because of an associated anomaly in red cell morphology ...
Platelets, the smallest cells in the blood , are associated with hemostasis, bowel formation, tissue remodeling, and wound healing. Although the prevalence of inherited platelet disorders ...
of cerebrovascular disease associated with such abnormalities , we analyzed a series of 23 consecutive patients in a case-control study with ischemic stroke proven by computerised tomography and aged below 45 years ...
case of inherited bone marrow (BM) failure, including marked thrombocytopenia, morphological abnormalities , and cortical dysplasia, associated with a de novo p.D249V variant in TUBB. Mutant TUBB had ...
* describe icterus neonatorum associated with severe hsemolytic a n e m i a in the foal, due to iso-immunization of pregnancy. The syndrome is due t o an incompatible blood group reaction similar to t h a t ...
The Kell blood group , which presently includes 18 associated antigens, can now be seen as a system of considerable complexity. Most of the antigenic specificities reflect different mutational sites ...
Background/Aims: Thromboembolic disease has been recognized as a complication of inflammatory bowel disease (IBD). The relative contributions of inherited or acquired ...
are a group of orphan diseases with severe and irreversible skeletal abnormalities associated with multiorgan impairments. Identifying the gene variants that cause these pathologies proves to be difficult ...
(NS), Bloom’s syndrome (BS), Ataxia-telangiectasia (A-T) and Ataxia telangiectasia like disorder (ATLD). Inherited bone marrow failure syndromes constitute a group of diseases that are extremely rare ...
circumference and systolic and diastolic blood pressure of the subjects were recorded. Fasting blood glucose and serum lipid levels were measured. Results: Both groups were similar in terms of age and sex (p ...
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