Aldesia Provenzano

Florence, Italy

Last Updated: 09/26/2026

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Found 32 publications

Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy).

Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy).

Journal: Microbiology spectrum

Published: April 18, 2023

Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females.

Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females.

Journal: Journal of clinical medicine

Published: June 28, 2022

Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia.

Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia.

Journal: Medicina (Kaunas, Lithuania)

Published: June 24, 2022

A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population.

A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population.

Journal: Frontiers in immunology

Published: March 07, 2022

STOP Pain Project-Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways.

STOP Pain Project-Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways.

Journal: Pharmaceutics

Published: February 18, 2022

Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.

Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.

Journal: Genes

Published: February 17, 2022

Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.

Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.

Journal: Frontiers in immunology

Published: December 21, 2021

Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder.

Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder.

Journal: Diagnostics (Basel, Switzerland)

Published: September 17, 2021

A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia.

A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia.

Journal: Journal of diabetes

Published: October 13, 2020

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.

Journal: Human genetics

Published: August 04, 2020

Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency.

Disseminated Mycobacterium xenopi in an Adult with IL-12Rβ1 Deficiency.

Journal: Journal of clinical immunology

Published: July 10, 2020

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Journal: American journal of medical genetics. Part A

Published: January 29, 2020

Showing 1-12 of 32

Last Updated: 09/26/2026