Kamila
Janusz
Investigadora en el periodo 2014-2021
Publicaciones en las que colabora con Kamila Janusz (11)
2021
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Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients
Annals of Hematology, Vol. 100, Núm. 8, pp. 1995-2004
2019
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Chronic graft-versus-host disease could ameliorate the impact of adverse somatic mutations in patients with myelodysplastic syndromes and hematopoietic stem cell transplantation
Annals of Hematology, Vol. 98, Núm. 9, pp. 2151-2162
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Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
Annals of Medicine, Vol. 51, Núm. 2, pp. 141-148
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Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders
Seminars in Thrombosis and Hemostasis, Vol. 45, Núm. 7, pp. 695-707
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Sitosterolemia: Diagnosis, metabolic and hematological abnormalities, cardiovascular disease and management
Current Medicinal Chemistry, Vol. 26, Núm. 37, pp. 6766-6775
2018
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Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
Haematologica, Vol. 103, Núm. 1, pp. 148-162
2017
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A two-step approach for sequencing spliceosome-related genes as a complementary diagnostic assay in MDS patients with ringed sideroblasts
Leukemia Research, Vol. 56, pp. 82-87
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Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes
Thrombosis and Haemostasis, Vol. 117, Núm. 1, pp. 66-74
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Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia
Journal of Thrombosis and Haemostasis, Vol. 15, Núm. 9, pp. 1859-1866
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Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia
Platelets, Vol. 28, Núm. 4, pp. 417-420