Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "SAFRAOU, Hana"
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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
TRAN MAU THEM, Frederic; DELANNE, Julian; DENOMMÉ-PICHON, Anne-Sophie ...(Frontiers in Genetics. vol. 14, pp. 1099995, 2023-01-01)Article de revueOpen access -
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
DENOMMÉ-PICHON, Anne-Sophie; MATALONGA, Leslie; DE BOER, Elke ...(Genetics in Medicine. vol. 25, n° 4, pp. 100018, 2023-04-01)Article de revueOpen access