Martina La Bianca

Trieste, Italy

Last Updated: 09/26/2026

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Found 20 publications

Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder.

Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder.

Journal: The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry

Published: May 26, 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

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

Journal: American journal of medical genetics. Part A

Published: January 12, 2022

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.

Journal: Biomedicines

Published: November 25, 2021

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

Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.

Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.

Journal: Molecular genetics & genomic medicine

Published: June 07, 2021

A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease.

A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease.

Journal: Human mutation

Published: September 29, 2020

Genetic insights into biological mechanisms governing human ovarian ageing.

Genetic insights into biological mechanisms governing human ovarian ageing.

Journal: Nature

Published: August 24, 2020

Taste perception and expression in stomach of bitter taste receptor tas2r38 in obese and lean subjects.

Taste perception and expression in stomach of bitter taste receptor tas2r38 in obese and lean subjects.

Journal: Appetite

Published: July 21, 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

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

Journal: Nature genetics

Published: January 17, 2019

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

Journal: Nature genetics

Published: September 16, 2018

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Last Updated: 09/26/2026