Associated Papers
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia.
Aloi C et al.
Life (basel, Switzerland), 2023
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 2021
33841295 (PubMed )
Supplement: Table_2.XLSX › Feuil1
Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.
Rigoli L et al.
Pediatric Research, 2020
The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.
Wang DD et al.
Frontiers in Genetics, 2019
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