Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "BANKA, Siddharth"
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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 -
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
PALMER, Elizabeth E; PUSCH, Michael; PICOLLO, Alessandra ...(Molecular Psychiatry. vol. 28, n° 2, pp. 668-697, 2023-02-01)Article de revueOpen access