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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
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities 2024 . Kakar, Naseebullah \| Mascarenhas, Selinda \| Ali, Asmat \| Ijlal Haider, Syed M. \| Badiger, Vaishnavi Ashok \| Ghofrani, Mobina Shadman \| Kruse, Nathalie \| Hashmi, Sohana Nadeem \| Pozojevic, Jelena \| Balachandran, Saranya \| Toft, Mathias \| Malik, Sajid \| Händler, Kristian \| Fatima, Ambrin \| Iqbal, Zafar \| Shukla, Anju \| Spielmann, Malte \| Radhakrishnan, Periyasamy	2024		http://purl.org/ontology/bibo/Article
Genetic variants in patients with multiple arterial aneurysms 2024 . Körfer, Daniel \| Grond-Ginsbach, Caspar \| Peters, Andreas S. \| Burkart, Sebastian \| Hempel, Maja \| Schaaf, Christian P. \| Böckler, Dittmar \| Erhart, Philipp	2024		http://purl.org/ontology/bibo/Article