Alessia Mauri

Milan, Italy

Last Updated: 09/26/2026

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Found 18 publications

Beyond newborn screening: the role of reverse cascade testing in familial disease detection.

Beyond newborn screening: the role of reverse cascade testing in familial disease detection.

Journal: Critical reviews in clinical laboratory sciences

Published: July 17, 2025

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation.

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation.

Journal: International journal of neonatal screening

Published: July 08, 2025

Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31.

Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31.

Journal: International journal of neonatal screening

Published: June 25, 2025

Expanded Newborn Screening in Italy: The First Report of Lombardy Region.

Expanded Newborn Screening in Italy: The First Report of Lombardy Region.

Journal: International journal of neonatal screening

Published: February 04, 2025

Correction to: A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Correction to: A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Journal: Genes & genomics

Published: January 27, 2025

Children's health: insights from space medicine on metabolic health.

Children's health: insights from space medicine on metabolic health.

Journal: NPJ microgravity

Published: September 25, 2024

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Journal: Genes & genomics

Published: July 08, 2024

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Journal: Genes

Published: July 03, 2024

Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots.

Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots.

Journal: Molecular genetics and metabolism reports

Published: December 19, 2023

Role of epigenetics and alterations in RNA metabolism in leukodystrophies.

Role of epigenetics and alterations in RNA metabolism in leukodystrophies.

Journal: Wiley interdisciplinary reviews. RNA

Published: November 30, 2023

Gene expression analysis in subcutaneous adipose tissue reveals a predominant influence of lncRNAs during growth.

Gene expression analysis in subcutaneous adipose tissue reveals a predominant influence of lncRNAs during growth.

Journal: Genes & diseases

Published: November 21, 2023

Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome.

Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome.

Journal: Pediatric neurology

Published: May 25, 2023

Showing 1-12 of 18

Last Updated: 09/26/2026