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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Biallelic variants in YRDC cause a developmental disorder with progeroid features 2021 . Schmidt, Julia \| Goergens, Jonas \| Pochechueva, Tatiana \| Kotter, Annika \| Schwenzer, Niko \| Sitte, Maren \| Werner, Gesa \| Altmüller, Janine \| Thiele, Holger \| Nürnberg, Peter \| Isensee, Jörg \| Li, Yun \| Müller, Christian \| Leube, Barbara \| Reinhardt, H. Christian \| Hucho, Tim \| Salinas, Gabriela \| Helm, Mark \| Jachimowicz, Ron D. \| Wieczorek, Dagmar \| Kohl, Tobias \| Lehnart, Stephan E. \| Yigit, Gökhan \| Wollnik, Bernd	2021		http://purl.org/ontology/bibo/Article
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy 2021 . Parenti, Ilaria \| Lehalle, Daphné \| Nava, Caroline \| Torti, Erin \| Leitão, Elsa \| Person, Richard \| Mizuguchi, Takeshi \| Matsumoto, Naomichi \| Kato, Mitsuhiro \| Nakamura, Kazuyuki \| de Man, Stella \| Cope, Heidi \| Shashi, Vandana \| Friedman, Jennifer \| Joset, Pascal \| Steindl, Katharina \| Rauch, Anita \| Muffels, Irena \| van Hasselt, Peter M \| petit, florence \| Smol, Thomas \| Le Guyader, Gwenaël \| Bilan, Frédéric \| Sorlin, Arthur \| Vitobello, Antonio \| PHILIPPE, Christophe \| van de Laar, Ingrid \| van Slegtenhorst, Marjon A. \| Campeau, Philippe \| Au, Ping Yee \| Nakashima, Mitsuko \| Saitsu, Hirotomo \| Yamamoto, Tatsuya \| Nomura, Yumiko \| Louie, Raymond \| Lyons, Michael \| Dobson, Amy \| Plomp, Astrid S. \| Motazacker, M. Mahdi \| Kaiser, Frank J. \| Timberlake, Andrew \| Fuchs, Sabine \| Depienne, Christel \| Mignot, Cyril	2021		http://purl.org/ontology/bibo/Article
Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family 2021 . Carrion-Castillo, Amaia \| B. Estruch, Sara \| Maassen, Ben \| Franke, Barbara \| Francks, Clyde \| Fisher, Simon	2021		http://purl.org/ontology/bibo/Article
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum 2021 . Buelow, Markus \| Süßmuth, David \| Smith, Laurie D. \| Aryani, Omid \| CASTIGLIONI, CLAUDIA \| Stenzel, Werner \| Bertini, Enrico \| Schuelke, Markus \| Knierim, Ellen	2021		http://purl.org/ontology/bibo/Article
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability 2021 . Haag, Natja \| Tan, Ene-Choo \| Begemann, Matthias \| Buschmann, Lars \| Kraft, Florian \| Holschbach, Petra \| Lai, Angeline H. M. \| Brett, Maggie \| Mochida, Ganeshwaran H. \| DiTroia, Stephanie \| Pais, Lynn \| Neil, Jennifer E. \| Al-Saffar, Muna \| Bastaki, Laila \| Walsh, Christopher \| Kurth, Ingo \| Knopp, Cordula	2021		http://purl.org/ontology/bibo/Article
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees 2021 . Brenner, David \| Müller, Kathrin \| Lattante, Serena \| Yilmaz, Rüstem \| Knehr, Antje \| Freischmidt, Axel \| Ludolph, Albert C. \| Andersen, Peter M. \| Weishaupt, Jochen H.	2021		http://purl.org/ontology/bibo/Article
Genome sequencing in families with congenital limb malformations 2021 . Elsner, Jonas \| Mensah, Martin A. \| Holtgrewe, Manuel \| Hertzberg, Jakob \| Bigoni, Stefania \| Busche, Andreas \| Coutelier, Marie \| de Silva, Deepthi C. \| Elçioglu, Nursel \| Filges, Isabel \| Gerkes, Erica \| Girisha, Katta M. \| Graul-Neumann, Luitgard \| Jamsheer, Aleksander \| Krawitz, Peter \| Kurth, Ingo \| Markus, Susanne \| Megarbane, Andre \| Reis, André \| Reuter, Miriam S. \| Svoboda, Daniel \| Teller, Christopher \| Tuysuz, Beyhan \| Türkmen, Seval \| Wilson, Meredith \| Woitschach, Rixa \| Vater, Inga \| Caliebe, Almuth \| Hülsemann, Wiebke \| Horn, Denise \| Mundlos, Stefan \| Spielmann, Malte	2021		http://purl.org/ontology/bibo/Article
Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains 2021 . Eggermann, Thomas \| Begemann, Matthias \| Pfeiffer, Lutz	2021		http://purl.org/ontology/bibo/Article
Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant 2021 . Hanker, Britta \| Gillessen-Kaesbach, Gabriele \| Hüning, Irina \| Lüdecke, Hermann-Josef \| Wieczorek, Dagmar	2021		http://purl.org/ontology/bibo/Article
Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy 2021 . Lieberwirth, Johann Kaspar \| Joset, Pascal \| Heinze, Anja \| Hentschel, Julia \| Stein, Anja \| Iannaccone, Antonella \| Steindl, Katharina \| Kuechler, Alma \| Abou Jamra, Rami	2021		http://purl.org/ontology/bibo/Article

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