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10 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
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
Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li–Fraumeni syndrome 2021 . Winter, Greta \| Kirschner-Schwabe, Renate \| Groeneveld-Krentz, Stefanie \| Escherich, Gabriele \| Möricke, Anja \| von Stackelberg, Arend \| Stanulla, Martin \| Bailey, Simon \| Richter, Lisa \| Steinemann, Doris \| Ripperger, Tim \| Escudero, Adela \| Farah, Roula \| Lohi, Olli \| Wadt, Karin \| Jongmans, Marjolijn \| van Engelen, Nienke \| Eckert, Cornelia \| Kratz, Christian	2021		http://purl.org/ontology/bibo/Article
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum 2021 . Buelow, Markus \| Süßmuth, David \| Smith, Laurie D. \| Aryani, Omid \| CASTIGLIONI, CLAUDIA \| Stenzel, Werner \| Bertini, Enrico \| Schuelke, Markus \| Knierim, Ellen	2021		http://purl.org/ontology/bibo/Article
Familial cleft tongue caused by a unique translation initiation codon variant in TP63 2021 . Schmidt, Julia \| Schreiber, Gudrun \| Altmüller, Janine \| Thiele, Holger \| Nürnberg, Peter \| Li, Yun \| Kaulfuß, Silke \| Funke, Rudolf \| Wilken, Bernd \| Yigit, Gökhan \| Wollnik, Bernd	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
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS 2020 . Braunisch, Matthias Christoph \| Riedhammer, Korbinian Maria \| Herr, Pierre-Maurice \| Draut, Sarah \| Günthner, Roman \| Wagner, Matias \| Weidenbusch, Marc \| Lungu, Adrian \| Alhaddad, Bader \| Renders, Lutz \| Strom, Tim M. \| Heemann, Uwe \| Meitinger, Thomas \| Schmaderer, Christoph \| Hoefele, Julia	2020		http://purl.org/ontology/bibo/Article
Validation and refinement of the revised 2017 European LeukemiaNet genetic risk stratification of acute myeloid leukemia 2020 . Herold, Tobias \| Rothenberg-Thurley, Maja \| Grunwald, Victoria V. \| Janke, Hanna \| Goerlich, Dennis \| Sauerland, Maria C. \| Konstandin, Nikola P. \| Dufour, Annika \| Schneider, Stephanie \| Neusser, Michaela \| Ksienzyk, Bianka \| Greif, Philipp A. \| Subklewe, Marion \| Faldum, Andreas \| Bohlander, Stefan \| Braess, Jan \| Wörmann, Bernhard \| Krug, Utz \| Berdel, Wolfgang E. \| Hiddemann, Wolfgang \| Spiekermann, Karsten \| Metzeler, Klaus	2020		http://purl.org/ontology/bibo/Article
In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas 2020 . Le Duc, Diana \| Hentschel, Julia \| Neuser, Sonja \| Stiller, Mathias \| Meier, Carolin \| Jäger, Elisabeth \| Abou Jamra, Rami \| Platzer, Konrad \| Monecke, Astrid \| Ziemer, Mirjana \| Markovic, Aleksander \| Bläker, Hendrik \| Lemke, Johannes	2020		http://purl.org/ontology/bibo/Article
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery 2020 . Hengel, Holger \| Buchert, Rebecca \| Sturm, Marc \| Haack, Tobias B. \| Schelling, Yvonne \| Mahajnah, Muhammad \| Sharkia, Rajech \| Azem, Abdussalam \| Balousha, Ghassan \| Ghanem, Zaid \| falana, mohammed \| Balousha, Osama \| Ayesh, Suhail \| Keimer, Reinhard \| Deigendesch, Werner \| Zaidan, Jimmy \| Marzouqa, Hiyam \| Bauer, Peter \| Schöls, Ludger	2020		http://purl.org/ontology/bibo/Article
Rare heterozygous GDF6 variants in patients with renal anomalies 2020 . Martens, Helge \| Hennies, Imke \| Getwan, Maike \| Christians, Anne \| Weiss, Anna-Carina \| Brand, Frank \| Gjerstad, Ann Christin \| Christians, Arne \| Gucev, Zoran \| Geffers, Robert \| Seeman, Tomáš \| Kispert, Andreas \| Tasic, Velibor \| Bjerre, Anna \| Lienkamp, Soeren S. \| Haffner, Dieter \| Weber, Ruthild	2020		http://purl.org/ontology/bibo/Article