ISTH 2022 Congress
Platelet Disorders, von Willebrand Disease and Thrombotic Microangiopathies » Platelet Function Disorders, Hereditary
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- ISTH 2022 Congress
- Platelet Disorders, von Willebrand Disease and Thrombotic Microangiopathies
- Platelet Function Disorders, Hereditary
- Platelet Disorders, von Willebrand Disease and Thrombotic Microangiopathies
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Abstract Number: VPB1249
A case report of Inherited platelet function disorders caused by double site mutation of RASGRP2 gene and pedigree analysis
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Abstract Number: PB1239
A Familial Case of MYH9 Gene Mutation Associated with Impaired Platelet Functionality and Structural Alterations
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Abstract Number: PB1233
Association of Genetic Variability in MRVI1Gene in Patients With Arterial Thrombosis and Platelet Hyperaggregability
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Abstract Number: PB1237
Bleeding diathesis in a girl with biallelic variants in RASGRP2 gene affecting platelet CalDAG-GEFI function
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Abstract Number: PB1236
Carrier detection of Glanzmann Thrombasthenia by Flow Cytometry
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Abstract Number: PB1235
Clinical and mutational spectrum of inherited thrombocytopenia related to cytoskeleton protein defects.
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Abstract Number: PB1244
Development of Consensus on Standardized Nomenclature for PT-VWD- Joint Project from the ISTH SSCs on Platelet Physiology, VWF and Genomics in thrombosis and Haemostasis
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Abstract Number: PB1238
Effect of constitutive activation of the calcium sensor STIM1 on haemostasis
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Abstract Number: OC 64.5
Effect of the DIAPH1 R1213* GOF variant in actin-dependent cytoskeleton organization in megakaryocytes
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Abstract Number: PB1232
Hermansky-Pudlak syndrome: Identification of novel variants in the genes HPS3, HPS5, and DTNBP1 (HPS-7) and analysis of lymphocyte cytotoxicity for the HPS-7 patient
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Abstract Number: PB1247
High bleeding rates in delta-storage pool disease
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Abstract Number: VPB1251
Identification and evaluation of novel variants associated with platelet function disorders by NGS-based high-throughput sequencing
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Abstract Number: PB1240
Inherited Platelet Disorders Associated With Platelet Membrane Glycoproteins Abnormalities: A Portuguese Centre Experience
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Abstract Number: PB1248
Integrated diagnostic workflow in two siblings with albinism and suspected Hermansky-Pudlak syndrome
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Abstract Number: PB1243
ITGB3/ITGA2B-related platelet disorders: phenotypic and genetic aspects of a series of 20 families evaluated in a single centre
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Abstract Number: PB1234
Novel Pathological GATA1 Variant Leads to Defective Platelet Biogenesis via Impaired Transcriptional Regulation
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Abstract Number: PB1246
Platelet Dysfunction in Inherited Thrombocytopenias with Predisposition to Hematologic Malignancies and its Correlation with Bleeding: Analysis of 23 Patients with RUNX1, ANKRD26, and EVT6 Mutations
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Abstract Number: PB1241
Rotational thromboelastometry (ROTEM) in patients with bleeding of unknown cause: evidence for hemostatic imbalance
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Abstract Number: PB1242
The phenotypic and genetic heterogeneity of Hermansky-Pudlack Syndrome