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1 Ergebnisse
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A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:
Denommé-Pichon, Anne-Sophie
;
Matalonga, Leslie
;
de Boer, Elke
...
https://doi.org/10.1016/j.gim.2023.100018. , 2023
Link:
https://hdl.handle.net/20.500.12105/15629
RT Journal T1
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
UL https://suche.suub.uni-bremen.de/peid=base-ftintsaludcarlos:oai:repisalud.isciii.es:20.500.12105_15629&Exemplar=1&LAN=DE A1 Denommé-Pichon, Anne-Sophie A1 Matalonga, Leslie A1 de Boer, Elke A1 Jackson, Adam A1 Benetti, Elisa A1 Banka, Siddharth A1 Bruel, Ange-Line A1 Ciolfi, Andrea A1 Clayton-Smith, Jill A1 Dallapiccola, Bruno A1 Duffourd, Yannis A1 Ellwanger, Kornelia A1 Fallerini, Chiara A1 Gilissen, Christian A1 Graessner, Holm A1 Haack, Tobias B A1 Havlovicova, Marketa A1 Hoischen, Alexander A1 Jean-Marçais, Nolwenn A1 Kleefstra, Tjitske A1 Lopez-Martin, Estrella A1 Macek, Milan A1 Mencarelli, Maria Antonietta A1 Moutton, Sébastien A1 Pfundt, Rolph A1 Pizzi, Simone A1 Posada De la Paz, Manuel A1 Radio, Francesca Clementina A1 Renieri, Alessandra A1 Rooryck, Caroline A1 Ryba, Lukas A1 Safraou, Hana A1 Schwarz, Martin A1 Tartaglia, Marco A1 Thauvin-Robinet, Christel A1 Thevenon, Julien A1 Tran Mau-Them, Frédéric A1 Trimouille, Aurélien A1 Votypka, Pavel A1 de Vries, Bert B A A1 Willemsen, Marjolein H A1 Zurek, Birte A1 Verloes, Alain A1 Philippe, Christophe A1 Vitobello, Antonio A1 Vissers, Lisenka E L M A1 Faivre, Laurence PB Elsevier YR 2023 K1 ClinVar K1 Developmental disorder K1 Exome reanalysis K1 Rare diseases JF https://doi.org/10.1016/j.gim.2023.100018 LK http://dx.doi.org/https://hdl.handle.net/20.500.12105/15629 DO https://hdl.handle.net/20.500.12105/15629 SF ELIB - SuUB Bremen
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