Publicacions en què col·labora amb Kamila Janusz (9)

2019

  1. 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

  2. Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

    Seminars in Thrombosis and Hemostasis, Vol. 45, Núm. 7, pp. 695-707

  3. Sitosterolemia: Diagnosis, metabolic and hematological abnormalities, cardiovascular disease and management

    Current Medicinal Chemistry, Vol. 26, Núm. 37, pp. 6766-6775

2018

  1. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

    Haematologica, Vol. 103, Núm. 1, pp. 148-162

2017

  1. 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

  2. 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

  3. 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

  4. Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia

    Platelets, Vol. 28, Núm. 4, pp. 417-420

2015

  1. Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts

    PLoS ONE, Vol. 10, Núm. 5