Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases
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| Auteurs | Colin E, Duffourd Y, Callier P, Tisserant E, Besnard T, Goldenberg A, Cogne B, Isidor B, Sorlin A, Moutton S, Delanne J, Bruel AL, Mau-Them FT, Denomme-Pichon AS, Fradin M, Dubourg C, Gorce M, El Chehadeh S, Debray FG, Fenzy MD, Uguen K, Boland A, Olaso R, Deleuze JF, Sanlaville D, Philippe C, Thauvin-Robinet C, Faivre L and Vitobello A |
| Revue | European Journal of Human Genetics 30 (Suppl 1), 356-357, 2022 |
| Année | 2 022 |
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