Filtros de búsqueda

Lista de obras de Serena Barozzi

Chaperone molecules concentrate together with the ubiquitin-proteasome system inside particulate cytoplasmic structures: possible role in metabolism of misfolded proteins

artículo científico publicado en 2015

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

scientific article published on 27 December 2018

MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

artículo científico publicado en 2012

MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.

artículo científico publicado en 2012

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

artículo científico publicado en 2011

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells

artículo científico publicado en 2011

Particulate cytoplasmic structures with high concentration of ubiquitin-proteasome accumulate in myeloid neoplasms

artículo científico publicado en 2015

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

artículo científico publicado en 2014

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.

artículo científico publicado en 2014

Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia

artículo científico publicado en 2012

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda