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Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
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Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.
Am J Med Genet A. 2017 Oct;173(10):2826-2830. doi: 10.1002/ajmg.a.38411. Epub 2017 Aug 16.
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Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1).
Clin Genet. 2017 Jun;91(6):892-901. doi: 10.1111/cge.12915. Epub 2016 Dec 16.
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Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.
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Inherited platelet disorders: toward DNA-based diagnosis.
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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.
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Blood. 2016 Jun 9;127(23):2903-14. doi: 10.1182/blood-2015-10-675629. Epub 2016 Feb 24.
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Effect of early surgery in high surgical risk geriatric patients with femoral neck fracture and taking antiplatelet agents.
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Molecular basis of inherited thrombocytopenias.
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Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
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