Alessia Asaro

Pavia, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Journal: Clinical genetics

Published: June 05, 2026

Letter to the Editors: Concerning "SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient" by Johnsen et al.

Letter to the Editors: Concerning "SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient" by Johnsen et al.

Journal: Molecular genetics and metabolism

Published: May 05, 2025

Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2.

Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2.

Journal: Neurogenetics

Published: April 03, 2025

Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.

Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.

Journal: Diagnostics (Basel, Switzerland)

Published: April 09, 2021

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset.

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: April 07, 2021

Cortical malformations and COL4A1 mutation: Three new cases.

Cortical malformations and COL4A1 mutation: Three new cases.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: September 25, 2018

Unique genomic profile associated with pediatric uveal melanoma.

Unique genomic profile associated with pediatric uveal melanoma.

Journal: European journal of ophthalmology

Published: February 25, 2015

Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.

Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.

Journal: European journal of medical genetics

Published: January 07, 2015

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Journal: European journal of human genetics : EJHG

Published: June 18, 2014

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.

Journal: Epilepsia

Published: March 03, 2014

Showing 1-10 of 10

Last Updated: 09/26/2026