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4 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
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
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans 2021 . Vona, Barbara \| Mazaheri, Neda \| Lin, Sheng-Jia \| Dunbar, Lucy \| Maroofian, Reza \| Azaiez, Hela \| Booth, Kevin T. \| Vitry, Sandrine \| Rad, Abolfazl \| Rüschendorf, Franz \| Varshney, Pratishtha \| Fowler, Ben \| Beetz, Christian \| Alagramam, Kumar N. \| Murphy, David \| Shariati, Gholamreza \| Sedaghat, Alireza \| Houlden, Henry \| Petree, Cassidy \| VijayKumar, Shruthi \| Smith, Richard \| Haaf, Thomas \| EL-AMRAOUI, Aziz \| Bowl, Michael \| Varshney, Gaurav K. \| Galehdari, Hamid	2021		http://purl.org/ontology/bibo/Article
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis 2020 . Ganapathi, Mythily \| Argyriou, Loukas \| Martínez-Azorín, Francisco \| Morlot, Susanne \| Yigit, Gökhan \| Lee, Teresa \| Auber, Bernd \| von Gise, Alexander \| Petrey, Donald S. \| Thiele, Holger \| Cyganek, Lukas \| Sabater-Molina, Maria \| Ahimaz, Priyanka \| Cabezas-Herrera, Juan \| Sorlí García , Moises \| Zibat, Arne \| Siegelin, Markus \| Burfeind, Peter \| Buchovecky, Christie M. \| Hasenfuss, Gerd \| Honig, Barry \| Li, Yun \| Iglesias, Alejandro \| Wollnik, Bernd	2020		http://purl.org/ontology/bibo/Article