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3 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 2024 . Demidov, German \| Laurie, Steven \| Torella, Annalaura \| PILUSO, Giulio \| Scala, Marcello \| Morleo, Manuela \| Nigro, Vincenzo \| Graessner, Holm \| Banka, Siddharth \| Solve-RD consortium \| Macaya, Alfons \| Pérez-Dueñas, Belén \| Jackson, Adam \| Stevanin, Giovanni \| de Sainte Agathe, Jean-Madeleine \| Havlovicová, Markéta \| Horvath, Rita \| Pinelli, Michele \| van Os, Nienke J. H. \| van de Warrenburg, Bart P. C. \| Denommé-Pichon, Anne-Sophie \| Savarese, Marco \| Johari, Mridul \| Dallapiccola, Bruno \| Tartaglia, Marco \| Pauly, Martje G. \| Sommer, Anna Katharina \| Haack, Tobias B. \| Töpf, Ana \| Didier, Lacombe \| Fallerini, Chiara \| Renieri, Alessandra \| Chinnery, Patrick F. \| Natera-de Benito, Daniel \| Nascimento, Andres \| Trimouille, Aurélien \| Munell, Francina \| Marcé-Grau, Anna \| Rabah, Ben Yaou \| Bonne, Gisèle \| Van de Vondel, Liedewei \| Lohmann, Katja \| Ossowski, Stephan	2024		http://purl.org/ontology/bibo/Article
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples 2023 . Wijngaard, Robin \| Demidov, German \| O'Gorman, Luke \| Corominas-Galbany, Jordi \| Yaldiz, Burcu \| Steyaert, Wouter \| de Boer, Elke \| Vissers, Lisenka \| Kamsteeg, Erik-jan \| Pfundt, Rolph \| Swinkels, Hilde \| den Ouden, Amber \| te Paske, Iris B. A. W. \| de Voer, Richarda M \| Faivre, Laurence \| Denommé-Pichon, Anne-Sophie \| Duffourd, Yannis \| Vitobello, Antonio \| Chevarin, Martin \| Straub, Volker \| Topf, Ana \| van der Kooi, Anneke J. \| Magrinelli, Francesca \| Rocca, Clarissa \| Hanna, Michael G. \| Vandrovcova, Jana \| Solve-RD consortium \| Ossowski, Stephan \| Laurie, Steven \| Gilissen, Christian	2023		http://purl.org/ontology/bibo/Article
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples 2023 . Wijngaard, Robin \| Demidov, German \| O'Gorman, Luke \| Corominas-Galbany, Jordi \| Yaldiz, Burcu \| Steyaert, Wouter \| de Boer, Elke \| Vissers, Lisenka \| Kamsteeg, Erik-jan \| Pfundt, Rolph \| Swinkels, Hilde \| den Ouden, Amber \| te Paske, Iris B. A. W. \| de Voer, Richarda M \| Faivre, Laurence \| Denommé-Pichon, Anne-Sophie \| Duffourd, Yannis \| Vitobello, Antonio \| Chevarin, Martin \| Straub, Volker \| Topf, Ana \| van der Kooi, Anneke J. \| Magrinelli, Francesca \| Rocca, Clarissa \| Hanna, Michael G. \| Vandrovcova, Jana \| Solve-RD consortium \| Ossowski, Stephan \| Laurie, Steven \| Gilissen, Christian	2023		http://purl.org/ontology/bibo/Article