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Your search keyword '"Stuart, Meacham"' showing total 21 results

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1. A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology

2. Whole-genome sequencing of patients with rare diseases in a national health system.

3. Platelet function is modified by common sequence variation in megakaryocyte super enhancers

4. Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

6. Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits.

7. Genetic Analyses of Blood Cell Structure for Biological and Pharmacological Inference

8. Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations

9. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

10. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

11. A synthesis approach of mouse studies to identify genes and proteins in arterial thrombosis and bleeding

12. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

13. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

14. Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci

15. Nbeal2 interacts with Dock7, Sec16a, and Vac14

16. Transcriptional diversity during lineage commitment of human blood progenitors

17. Seventy-five genetic loci influencing the human red blood cell

18. Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits

19. The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

20. Can the Machines Run Themselves?

21. New gene functions in megakaryopoiesis and platelet formation

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