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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
Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19 2021 . Solanich, Xavier \| Vargas-Parra, Gardenia \| van der Made, Caspar I. \| Simons, Annet \| Schuurs-Hoeijmakers, Janneke \| Antolí, Arnau \| del Valle, Jesús \| Rocamora-Blanch, Gemma \| Setién, Fernando \| Esteller, Manel \| van Reijmersdal, Simon V. \| Riera-Mestre, Antoni \| Sabater-Riera, Joan \| Capellá, Gabriel \| van de Veerdonk, Frank L. \| van der Hoven, Ben \| Corbella, Xavier \| Hoischen, Alexander \| Lázaro, Conxi	2021		http://purl.org/ontology/bibo/Article
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype 2021 . Averdunk, Luisa \| Sticht, Heinrich \| Surowy, Harald \| Lüdecke, Hermann-Josef \| Koch-Hogrebe, Margarete \| Alsaif, Hessa S. \| Kahrizi, Kimia \| Alzaidan, Hamad \| Alawam, Bashayer S. \| Tohary, Mohamed \| Kraus, Cornelia \| Endele, Sabine \| Wadman, Erin \| Kaplan, Julie D. \| Efthymiou, Stephanie \| Najmabadi, Hossein \| Reis, André \| Alkuraya, Fowzan S. \| Wieczorek, Dagmar	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
Ruxolitinib-treated polycythemia vera patients and their risk of secondary malignancies 2021 . Sekhri, Rohit \| Sadjadian, Parvis \| Becker, Tatjana \| Kolatzki, Vera \| Huenerbein, Karlo \| Meixner, Raphael \| Marchi, Hannah \| Wallmann, Rudolf \| Fuchs, Christiane \| Griesshammer, Martin \| Wille, Kai	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
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia 2021 . Shalash, Ali \| Rösler, Thomas W. \| Salama, Mohamed \| Pendziwiat, Manuela \| Müller, Stefanie H. \| Hopfner, Franziska \| Höglinger, Günter \| Kuhlenbaeumer, Gregor	2021		http://purl.org/ontology/bibo/Article
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain 2021 . Neuser, Sonja \| krey, ilona \| Schwan, Annemarie \| Abou Jamra, Rami \| Bartolomaeus, Tobias \| Döring, Jan \| Syrbe, Steffen \| Plassmann, Margit \| Rohde, Stefan \| Roth, Christian \| Rehder, Helga \| Radtke, Maximilian \| Le Duc, Diana \| Schubert, Susanna \| Bermudez-Guzman, Luis \| Leal, Alejandro \| Schoner, Katharina \| Popp, Bernt	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
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