Eliana Salvo

Bosisio Parini, 23842, Italy

Last Updated: 09/26/2026

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Found 9 publications

TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

Journal: Genes
Published: May 10, 2026

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Journal: Genes
Published: October 21, 2025

Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case.

Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case.

Journal: European journal of human genetics : EJHG
Published: March 11, 2025

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.

Journal: Genes
Published: October 29, 2024

Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.

Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.

Journal: Frontiers in genetics
Published: June 23, 2023

Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.

Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.

Journal: Frontiers in genetics
Published: April 20, 2022

Investigating microbial indicators of anthropogenic marine pollution by 16S and 18S High-Throughput Sequencing (HTS) library analysis.

Investigating microbial indicators of anthropogenic marine pollution by 16S and 18S High-Throughput Sequencing (HTS) library analysis.

Journal: FEMS microbiology letters
Published: June 03, 2019

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

Journal: Human genetics
Published: November 19, 2018

Heme oxygenase-2/adiponectin protein-protein interaction in metabolic syndrome.

Heme oxygenase-2/adiponectin protein-protein interaction in metabolic syndrome.

Journal: Biochemical and biophysical research communications
Published: January 25, 2013
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Last Updated: 09/26/2026