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Your search keyword '"Okoli, Steven"' showing total 8 results

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1. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

2. Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level

3. Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

4. Recapitulation of erythropoiesis in congenital dyserythropoietic anemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities

6. Modelling erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I)

7. A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

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