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10 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract 2024 . Kesdiren, Esra \| Martens, Helge \| Brand, Frank \| Werfel, Lina \| Wedekind, Lukas \| Trowe, Mark-Oliver \| Schmitz, Jessica \| Hennies, Imke \| Geffers, Robert \| Gucev, Zoran \| Seeman, Tomáš \| Schmidt, Sonja \| Tasic, Velibor \| Fasano, Laurent \| Bräsen, Jan H. \| Kispert, Andreas \| Christians, Anne \| Haffner, Dieter \| Weber, Ruthild	2024		http://purl.org/ontology/bibo/Article
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy 2024 . Sajan, Samin A. \| Gradisch, Ralph \| Vogel, Florian D. \| Coffey, Alison \| Salyakina, Daria \| Soler, Diana \| Jayakar, Parul \| Jayakar, Anuj \| Bianconi, Simona E. \| Cooper, Annina H. \| Liu, Shuxi \| William, Nancy \| Benkel-Herrenbrück, Ira \| Maiwald, Robert \| Heller, Corina \| Biskup, Saskia \| Leiz, Steffen \| Westphal, Dominik Sebastian \| Wagner, Matias \| Clarke, Amy \| Stockner, Thomas \| Ernst, Margot \| Kesari, Akanchha \| Krenn, Martin	2024		http://purl.org/ontology/bibo/Article
Different growth patterns in two siblings with Schimke immuno-osseous-dysplasia 2024 . Bokenkamp, Arend \| Bouts, Antonia \| van der Weerd, Neeltje \| Levtchenko, Elena \| Haffner, Dieter \| Zivicnjak, Miroslav	2024		http://purl.org/ontology/bibo/Article
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly 2024 . Herbst, Charlotte \| Bothe, Viktoria \| Wegler, Meret \| Axer-Schaefer, Susanne \| Audebert-Bellanger, Séverine \| Gecz, Jozef \| Cogne, Benjamin \| Feldman, Hagit Baris \| Horn, Anselm H. C. \| Hurst, Anna C. E. \| Kelly, Melissa A. \| Kruer, Michael C. \| Kurolap, Alina \| Laquerriere, Annie \| Li, Megan \| Mark, Paul R. \| Morawski, Markus \| Nizon, Mathilde \| Pastinen, Tomi \| Polster, Tilman \| Saugier-Veber, Pascale \| SeSong, Jang \| Sticht, Heinrich \| Stieler, Jens T. \| Thifffault, Isabelle \| van Eyk, Clare L. \| Marcorelles, Pascale \| Vezain-Mouchard, Myriam \| Abou Jamra, Rami \| Oppermann, Henry	2024		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
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
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
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