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1 Ergebnisse
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Stepwise use of genomics and transcriptomics technologies i..:
Colin, Estelle
;
Duffourd, Yannis
;
Chevarin, Martin
...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fcell.2023.1021920. , 2023
Link:
https://univ-rennes.hal.science/hal-04067649
RT Journal T1
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
UL https://suche.suub.uni-bremen.de/peid=base-ftunivreimsca:oai:HAL:hal-04067649v1&Exemplar=1&LAN=DE A1 Colin, Estelle A1 Duffourd, Yannis A1 Chevarin, Martin A1 Tisserant, Emilie A1 Verdez, Simon A1 Paccaud, Julien A1 Bruel, Ange-Line A1 Tran Mau-Them, Frédéric A1 Denommé-Pichon, Anne-Sophie A1 Thevenon, Julien A1 Safraou, Hana A1 Besnard, Thomas A1 Goldenberg, Alice A1 Cogné, Benjamin A1 Isidor, Bertrand A1 Delanne, Julian A1 Sorlin, Arthur A1 Moutton, Sébastien A1 Fradin, Mélanie A1 Dubourg, Christèle A1 Gorce, Magali A1 Bonneau, Dominique A1 El Chehadeh, Salima A1 Debray, François-Guillaume A1 Doco-Fenzy, Martine A1 Uguen, Kevin A1 Chatron, Nicolas A1 Aral, Bernard A1 Marle, Nathalie A1 Kuentz, Paul A1 Boland, Anne A1 Olaso, Robert A1 Deleuze, Jean-François A1 Sanlaville, Damien A1 Callier, Patrick A1 Philippe, Christophe A1 Thauvin-Robinet, Christel A1 Faivre, Laurence A1 Vitobello, Antonio PB HAL CCSD; Frontiers media YR 2023 K1 RNA-seq K1 clinical diagnoses K1 genome sequencing K1 long-read sequencing K1 optical genome mapping K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics JF info:eu-repo/semantics/altIdentifier/doi/10.3389/fcell.2023.1021920 LK http://dx.doi.org/https://univ-rennes.hal.science/hal-04067649 DO https://univ-rennes.hal.science/hal-04067649 SF ELIB - SuUB Bremen
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