List of works by Caterina Marconi

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

scientific article published on 10 October 2012

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

scientific article published on 17 July 2020

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

scientific article

ANKRD26-related thrombocytopenia and myeloid malignancies

scientific article published on 01 September 2013

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

scientific article

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

scientific article

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

scientific article published on 18 May 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.

scientific article

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

scientific article

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

scientific journal article

Paulina is supported by:

About Paulina

Help