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9 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
Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES) 2023 . Königbauer, Josefine Theresia \| Fangmann, Laura \| Reinhardt, Charlotte \| Weichert, Alexander \| Henrich, Wolfgang \| Saskia, Biskup \| Gabriel, Heinz-Peter	2023		http://purl.org/ontology/bibo/Article
Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies 2021 . Denisova, Evgeniya \| Westphal, Dana \| Surowy, Harald \| Meier, Friedegund \| Hutter, Barbara \| Reifenberger, Julia \| Rütten, Arno \| Schulz, Alexander \| Sergon, Mildred \| Ziemer, Mirjana \| Brors, Benedikt \| Betz, Regina \| Redler, Silke	2021		http://purl.org/ontology/bibo/Article
Clinico-genetic findings in 509 frontotemporal dementia patients 2021 . Wagner, Matias \| Lorenz, Georg \| Volk, Alexander E. \| Brunet, Theresa \| Edbauer, Dieter \| BERUTTI, RICCARDO \| Zhao, Chen \| Anderl-Straub, Sarah \| Bertram, Lars \| Danek, Adrian \| Deschauer, Marcus \| Dill, Veronika \| Fassbender, Klaus \| Fliessbach, Klaus \| Götze, Katharina S. \| Jahn, Holger \| Kornhuber, Johannes \| Landwehrmeyer, Bernhard \| Lauer, Martin \| Obrig, Hellmuth \| Prudlo, Johannes \| Schneider, Anja \| Schroeter, Matthias L. \| Uttner, Ingo \| Vukovich, Ruth \| Wiltfang, Jens \| Winkler, Andrea S. \| Zhou, Qihui \| Ludolph, Albert C. \| Oexle, Konrad \| Otto, Markus \| Diehl-Schmid, Janine \| Winkelmann, Juliane	2021		http://purl.org/ontology/bibo/Article
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects 2021 . Markus, Fenja \| Kannengießer, Annika \| Näder, Patricia \| Atigbire, Paul \| Scholten, Alexander \| Vössing, Christine \| Bültmann, Eva \| Korenke, G. Christoph \| Owczarek-Lipska, Marta \| Neidhardt, John	2021		http://purl.org/ontology/bibo/Article
Combining callers improves the detection of copy number variants from whole-genome sequencing 2021 . Coutelier, Marie \| Holtgrewe, Manuel \| Jäger, Marten \| Flöttman, Ricarda \| Mensah, Martin Atta \| Spielmann, Malte \| Krawitz, Peter \| Horn, Denise \| Beule, Dieter \| Mundlos, Stefan	2021		http://purl.org/ontology/bibo/Article
A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease 2020 . Sepulveda-Falla, Diego \| Chavez-Gutierrez, Lucia \| Portelius, Erik \| Vélez, Jorge I. \| Dujardin, Simon \| Barrera-Ocampo, Alvaro \| Dinkel, Felix \| Hagel, Christian \| Puig, Berta \| Mastronardi, Claudio \| Lopera, Francisco \| Hyman, Bradley T. \| Blennow, Kaj \| Arcos-Burgos, Mauricio \| de Strooper, Bart \| Glatzel, Markus	2020		http://purl.org/ontology/bibo/Article