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10 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
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies 2021 . Gripp, Karen \| Smithson, Sarah F. \| Scurr, Ingrid J. \| Baptista, Julia \| Majumdar, Anirban \| Pierre, Germaine \| Williams, Maggie \| Henderson, Lindsay B. \| Wentzensen, Ingrid M. \| McLaughlin, Heather \| Leeuwen, Lisette \| Simon, Marleen E. H. \| van Binsbergen, Ellen \| Dinulos, Mary Beth P. \| Kaplan, Julie D. \| McRae, Anne \| Superti-Furga, Andrea \| Good, Jean-Marc \| , Kerstin	2021		http://purl.org/ontology/bibo/Article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum 2021 . Hüffmeier, Ulrike \| Kraus, Cornelia \| Reuter, Miriam S. \| Uebe, Steffen \| Abbott, Mary-Alice \| Ahmed, Syed A. \| Rawson, Kristyn L. \| Barr, Eileen \| Li, Hong \| Bruel, Ange-Line \| Faivre, Laurence \| Tran Mau-Them, Frédéric \| Botti, Christina \| Brooks, Susan \| Burns, Kaitlyn \| Ward, D. Isum \| Dutra-Clarke, Marina \| Martinez-Agosto, Julian A. \| Lee, Hane \| Nelson, Stanley F. \| Zacher, Pia \| Abou Jamra, Rami \| Klöckner, Chiara \| McGaughran, Julie \| Kohlhase, Jürgen \| Schuhmann, Sarah \| Moran, Ellen \| Pappas, John \| Raas-Rothschild, Annick \| Sacoto, Maria J. Guillen \| Henderson, Lindsay B. \| Palculict, Timothy Blake \| Mullegama, Sureni V. \| Zghal Elloumi, Houda \| Reich, Adi \| Schrier Vergano, Samantha A. \| Wahl, Erica \| Reis, André \| Zweier, Christiane	2021		http://purl.org/ontology/bibo/Article
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants 2021 . Kloth, Katja \| Lozic, Bernarda \| Tagoe, Julia \| Hoffer, Mariëtte J. V. \| Van der Ven, Amelie \| Thiele, Holger \| Altmüller, Janine \| Kubisch, Christian \| Au, Ping Yee Billie \| Denecke, Jonas \| Bijlsma, Emilia K. \| Lessel, Davor	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
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
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males 2021 . Kreienkamp, Hans-Jürgen \| Wagner, Matias \| Weigand, Heike \| McConkie-Rossell, Allyn \| McDonald, Marie \| Keren, Boris \| Mignot, Cyril \| Gauthier, Julie \| Soucy, Jean-François \| Michaud, Jacques L. \| Dumas, Meghan \| Smith, Rosemarie \| Löbel, Ulrike \| Hempel, Maja \| Kubisch, Christian \| Denecke, Jonas \| Campeau, Philippe M. \| Bain, Jennifer M. \| Lessel, Davor	2021		http://purl.org/ontology/bibo/Article
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome 2020 . Ufartes, Roser \| Berger, Hanna \| Till, Katharina \| Salinas, Gabriela \| Sturm, Marc \| Altmüller, Janine \| Nürnberg, Peter \| Thiele, Holger \| Funke, Rudolf \| Apeshiotis, Neophytos \| Langen, Hendrik \| Wollnik, Bernd \| Borchers, Annette \| , Silke	2020		http://purl.org/ontology/bibo/Article
The adult phenotype of Schaaf-Yang syndrome 2020 . Marbach, Felix \| Elgizouli, Magdeldin \| Rech, Megan \| Beygo, Jasmin \| Erger, Florian \| Velmans, Clara \| Stumpel, Constance T. R. M. \| Stegmann, Alexander P. A. \| Beck-Wödl, Stefanie \| Gillessen-Kaesbach, Gabriele \| Horsthemke, Bernhard \| Schaaf, Christian P. \| Kuechler, Alma	2020		http://purl.org/ontology/bibo/Article
Enriched environment ameliorates adult hippocampal neurogenesis deficits in Tcf4 haploinsufficient mice 2020 . Braun, Katharina \| Häberle, Benjamin M. \| Wittmann, Marie-Theres \| Lie, Dieter Chichung	2020		http://purl.org/ontology/bibo/Article