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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
(Frontiers in Genetics. vol. 14, pp. 1099995, 2023-01-01)Article de revueLibre accès -
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
(Journal of Clinical Medicine. vol. 11, n° 5, pp. 1233, 2022-02-24)Article de revueLibre accès -
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
(Genetics in Medicine. vol. 25, n° 4, pp. 100018, 2023-04-01)Article de revueLibre accès