20 results on '"Marín-Quílez, Ana"'
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2. Effect of sarpogrelate treatment on 5-HT modulation of vascular sympathetic innervation and platelet activity in diabetic rats
3. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
4. Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders
5. GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
6. Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation
7. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
8. Identification By Longread Nanopore Sequencing of a Complex Structural Variant in ITGB3 with a Founder Effect Causing Glanzmann's Thrombasthenia in Two Unrelated Patients
9. Platelet transcriptome analysis in patients with germline RUNX1 mutations
10. A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling
11. Identification By Whole Exome Sequencing of the Molecular Defect in a Novel Gene Related to Glycosylation in Two Unrelated Families with Syndromic Macrothrombocytopenia
12. Novel variants in GALEcause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
13. Inherited Platelet Disorders: An Updated Overview
14. Characterization of the Platelet Phenotype Caused by a Germline RUNX1 Variant in a CRISPR/Cas9-Generated Murine Model
15. A novel nonsense variant in TPM4caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling
16. Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications
17. Inherited Thrombocytopenias Predisposing to Hematologic Neoplasms. Experience of the Spanish Group for Inherited Platelet Disorders (GEAPC)
18. Identification By Longread Nanopore Sequencing of a Complex Structural Variant in ITGB3with a Founder Effect Causing Glanzmann's Thrombasthenia in Two Unrelated Patients
19. Characterization of novel genes and variants involved in Congenital Platelet Disorders: from the genomic data to the functional studies
20. Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6and DTNBP1Associated with Significant Clinical Complications
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