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6 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
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
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