Associated Papers
Characterization of STRC Gene Conversions by Nanopore Sequencing.
Rigon C et al.
Clinical Chemistry, 2026
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S4_final
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Spedicati B et al.
Biomedicines, 2023
Long-read sequencing for molecular diagnostics in constitutional genetic disorders.
Conlin LK et al.
Human Mutation, 2022
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R et al.
Genes, 2021
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.
Mandelker D et al.
The Journal of Molecular Diagnostics : Jmd, 2014
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