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Lista de obras de Caterina Marconi

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

artículo científico publicado en 2012

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

artículo científico publicado en 2020

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

artículo científico publicado en 2014

ANKRD26-related thrombocytopenia and myeloid malignancies

artículo científico publicado en 2013

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

artículo científico publicado en 2014

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

artículo científico publicado en 2016

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

article

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

artículo científico publicado en 2011

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

scientific article published on 27 December 2018

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

artículo científico publicado en 2011

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

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia

scientific journal article

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