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2 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Comparison of the ABC and ACMG systems for variant classification 2024 . Houge, Gunnar \| Bratland, Eirik \| Aukrust, Ingvild \| Tveten, Kristian \| Žukauskaitė, Gabrielė \| Sansović, Ivona \| Brea-Fernández, Alejandro \| Mayer, Karin \| Paakkola, Teija \| McKenna, Caoimhe \| Wright, William \| Keckarevic Markovic, Milica \| Lildballe, Dorte \| Konecny, Michal \| Smol, Thomas \| Alhopuro, Pia \| Gouttenoire, Estelle Arnaud \| Obeid, Katharina \| Todorova, Albena \| Jankovic, Milena \| Lubieniecka, Joanna M. \| Stojiljkovic, Maja \| Buisine, Marie-Pierre \| Haukanes, Bjørn Ivar \| Lorans, Marie \| Roomere, Hanno \| Petit, François \| Haanpää, Maria K \| beneteau, Claire \| Pérez, Belén \| Plaseska-Karanfilska, Dijana \| Rath, Matthias \| Fuhrmann, Nico \| Ferreira, Bibiana I. \| Stephanou, Coralea \| Sjursen, Wenche \| Maver, Aleš \| Rouzier, cecile \| Chirita-Emandi, Adela \| Gonçalves, João \| Kuek, Wei Cheng David \| Broly, Martin \| Haer-Wigman, Lonneke \| Thong, Meow-Keong \| Tae, Sok Kun \| Hyblova, Michaela \| den Dunnen, Johan T. \| Laner, Andreas	2024		http://purl.org/ontology/bibo/Article
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly 2023 . Uctepe, Eyyup \| Vona, Barbara \| Esen, Fatma Nisa \| Sonmez, F. Mujgan \| Smol, Thomas \| Tümer, Sait \| Mancılar, Hanifenur \| Geylan Durgun, Dilan Ece \| Boute, Odile \| Moghbeli, Meysam \| Ghayoor Karimiani, Ehsan \| Hashemi, Narges \| Bakhshoodeh, Behnoosh \| Kim, Hyung Goo \| Maroofian, Reza \| Yesilyurt, Ahmet	2023		http://purl.org/ontology/bibo/Article