Associated Papers
Clinical utility of exome sequencing in hearing loss: a retrospective cohort study.
Liu C et al.
Frontiers in Genetics, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review.
Su L et al.
Molecular Genetics & Genomic Medicine, 2024
Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.
Aghamir SMK et al.
Genes, 2023
37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__1.xlsx › _1
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P et al.
Orphanet Journal of Rare Diseases, 2022
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
Di Bella D et al.
European Journal of Neurology, 2021
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