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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Unraveling novel mutation patterns and morphological variations in two dalbavancin-resistant MRSA strains in Austria using whole genome sequencing and transmission electron microscopy 2024 . Hotz, Julian Frederic \| Staudacher, Moritz \| Schefberger, Katharina \| Spettel, Kathrin \| Schmid, Katharina \| Kriz, Richard \| Schneider, Lisa \| Hagemann, Jürgen Benjamin \| Cyran, Norbert \| Schmidt, Katy \| Starzengruber, Peter \| Lötsch, Felix \| Leutzendorff, Amelie \| Daller, Simon \| Ramharter, Michael \| Burgmann, Heinz \| Lagler, Heimo	2024		http://purl.org/ontology/bibo/Article
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles 2024 . Bassani, Sissy \| Chrast, Jacqueline \| Ambrosini, Giovanna \| Voisin, Norine \| Schütz, Frédéric \| Brusco, Alfredo \| Sirchia, Fabio \| Turban, Lydia \| Schubert, Susanna \| Abou Jamra, Rami \| Schlump, Jan-Ulrich \| DeMille, Desiree \| Bayrak-Toydemir, Pinar \| Nelson, Gary Rex \| Wong, Kristen Nicole \| Duncan, Laura \| Mosera, Mackenzie \| Gilissen, Christian \| Vissers, Lisenka E. L. M. \| Pfundt, Rolph \| Kersseboom, Rogier \| Yttervik, Hilde \| Hansen, Geir Åsmund Myge \| Smeland, Marie Falkenberg \| Butler, Kameryn M. \| Lyons, Michael J. \| Carvalho, Claudia M. B. \| Zhang, Chaofan \| Lupski, James R. \| Potocki, Lorraine \| Flores-Gallegos, Leticia \| Morales-Toquero, Rodrigo \| Petit, Florence \| Yalcin, Binnaz \| Tuttle, Annabelle \| Elloumi, Houda Zghal \| McCormick, Lane \| Kukolich, Mary \| Klaas, Oliver \| Horvath, Judit \| Scala, Marcello \| Iacomino, Michele \| Operto, Francesca \| Zara, Federico \| Writzl, Karin \| Maver, Aleš \| Haanpää, Maria K. \| Pohjola, Pia \| Arikka, Harri \| Kievit, Anneke J. A. \| Calandrini, Camilla \| Iseli, Christian \| Guex, Nicolas \| Reymond, Alexandre	2024		http://purl.org/ontology/bibo/Article
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes 2024 . Schmidt, Julia \| Kaulfuß, Silke \| Ott, Hagen \| Gaubert, Marianne \| Reintjes, Nadine \| Bremmer, Felix \| Dreha-Kulaczewski, Steffi \| Stroebel, Philipp \| Yigit, Gökhan \| Wollnik, Bernd	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
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

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