Anna M. Bianco

Trieste, 34137, Italy

Last Updated: 09/26/2026

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Found 38 publications

A Family Exhibiting Autosomal Dominant Inheritance of Multiple Acyl-Coenzyme A (CoA) Dehydrogenase Deficiency (MADD) Disease.

A Family Exhibiting Autosomal Dominant Inheritance of Multiple Acyl-Coenzyme A (CoA) Dehydrogenase Deficiency (MADD) Disease.

Journal: International journal of molecular sciences

Published: June 03, 2026

Post-procedure sedation and apnea linked to ion channel variant: a case report on dexmedetomidine-propofol interaction.

Post-procedure sedation and apnea linked to ion channel variant: a case report on dexmedetomidine-propofol interaction.

Journal: Frontiers in pharmacology

Published: December 21, 2024

Sensitive Detection of Gynecological Cancer Recurrence Using Circulating Tumor DNA and Digital PCR: A Comparative Study with Serum Biochemical Markers.

Sensitive Detection of Gynecological Cancer Recurrence Using Circulating Tumor DNA and Digital PCR: A Comparative Study with Serum Biochemical Markers.

Journal: International journal of molecular sciences

Published: September 30, 2024

Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.

Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.

Journal: Frontiers in immunology

Published: March 23, 2023

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.

Journal: Genes

Published: September 14, 2022

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.

Journal: Genes

Published: February 16, 2022

MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.

MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.

Journal: Journal of pediatric gastroenterology and nutrition

Published: February 07, 2022

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.

Journal: Haematologica

Published: August 11, 2021

Notch Signaling Regulation in Autoinflammatory Diseases.

Notch Signaling Regulation in Autoinflammatory Diseases.

Journal: International journal of molecular sciences

Published: November 06, 2020

High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).

High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).

Journal: Pediatric rheumatology online journal

Published: November 25, 2019

Laser-slicing at a low-emittance storage ring.

Laser-slicing at a low-emittance storage ring.

Journal: Journal of synchrotron radiation

Published: April 26, 2019

Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience.

Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience.

Journal: Inflammatory bowel diseases

Published: April 22, 2019

Showing 1-12 of 38

Last Updated: 09/26/2026