Michela Faleschini

Trieste, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 28 publications

A Long Misdiagnosed MYH9-Related Disease With Both Bleeding and Thrombotic Manifestations: A Case Report.

A Long Misdiagnosed MYH9-Related Disease With Both Bleeding and Thrombotic Manifestations: A Case Report.

Journal: Haemophilia : the official journal of the World Federation of Hemophilia

Published: October 18, 2025

Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations.

Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations.

Journal: Haematologica

Published: December 23, 2024

Functional Testing of ETV6 Variants: Is the Evaluation of Their Intracellular Localization Sufficient in Assessing Pathogenicity?

Functional Testing of ETV6 Variants: Is the Evaluation of Their Intracellular Localization Sufficient in Assessing Pathogenicity?

Journal: Genes

Published: December 06, 2024

Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.

Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.

Journal: Cells

Published: November 22, 2024

Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.

Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.

Journal: British journal of haematology

Published: January 19, 2024

ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.

ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.

Journal: British journal of haematology

Published: November 13, 2023

Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event.

Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event.

Journal: Frontiers in genetics

Published: June 15, 2023

A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.

A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.

Journal: Frontiers in genetics

Published: April 20, 2023

A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.

A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.

Journal: British journal of haematology

Published: March 31, 2023

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.

Journal: Annals of hematology

Published: October 21, 2022

"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).

"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).

Journal: Frontiers in pediatrics

Published: June 12, 2022

Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia.

Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia.

Journal: Haematologica

Published: May 23, 2022

Showing 1-12 of 28

Last Updated: 09/26/2026