ISTH 2021 Congress
Platelet Disorders, von Willebrand Disease and Thrombotic Microangiopathies » Inherited Thrombocytopenias
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- ISTH 2021 Congress
- Platelet Disorders, von Willebrand Disease and Thrombotic Microangiopathies
- Inherited Thrombocytopenias
- Platelet Disorders, von Willebrand Disease and Thrombotic Microangiopathies
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Abstract Number: PB0868
Assigning Pathogenicity to a Novel de Novo ACTN1 Variant in a Child with Macrothrombocytopenia: A Case Description And Review of Previously Identified Variants
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Abstract Number: OC 31.4
Characterization of a New Family with Lifelong Macrothrombocytopenia Caused by a Novel Nonsense Variant in TPM4
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Abstract Number: OC 31.2
Clinical and Biological Assessment of the Largest Family with SRC-RT due to p.E527K Gain-of-Function Variant
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Abstract Number: LPB0080
Clinical and Biological Assessment of the Second Pedigree Affected with X-linked GATA-1 Related Thrombocytopenia and Blood Group Lutheran Null
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Abstract Number: PB0873
Clinical Application of Genetic Testing in Patients with Not Acquired Thrombocytopenia: One Center Experience
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Abstract Number: OC 21.1
Diagnosing Inherited Platelet Disorders: Immunofluorescence on the Blood Smear in Comparison with Genetic Testing
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Abstract Number: PB0870
Disturbed Platelet Activation in Children with ANKRD26-associated Thrombocytopenia
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Abstract Number: PB0871
Evaluation of the Sialidase Inhibitor Oseltamivir in GNE-associated Thrombocytopenia
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Abstract Number: PB0874
Evolution over 50 Years of a Patient with Undiagnosed Gray Platelet Syndrome
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Abstract Number: PB0872
Immunofluorescence Staining of Blood Smears for the Diagnostics of Platelet Disorders: A Single-center Experience in a Pediatric Hospital
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Abstract Number: PB0867
Investigations of the Impact of Sialidase-mediated Changes on Bleeding Using a Humanized in vivo Mouse Model
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Abstract Number: PB0869
Targeted Next Generation Sequencing for the Diagnosis of Patients with Inherited Thrombocytopenias
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Abstract Number: PB0875
The Analysis of Platelet Functional Activity in Patients with Thrombocytopenia
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Abstract Number: PB0866
The Copenhagen Founder Variant GP1BA c.58T>G is Causal of Monoallelic Bernard-Soulier Syndrome