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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
Effect of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in a community-based cohort of older adults 2021 . villagomez fuentes, linda elizabeth \| Algharably, Engi Abdel–Hady \| Toepfer, Sarah \| König, Maximilian \| Demuth, Ilja \| Bertram, Lars \| Kreutz, Reinhold \| Bolbrinker, Juliane	2021		http://purl.org/ontology/bibo/Article
Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders 2021 . Klau, Julia \| Abou Jamra, Rami \| Radtke, Maximilian \| Oppermann, Henry \| Lemke, Johannes \| Beblo, Skadi \| Popp, Bernt	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
The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases 2021 . Fuchs, Sigrid \| Lisfeld, Jasmin \| Kankel, Stefanie \| Person, Luisa \| Liehr, Thomas	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
Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson’s disease 2021 . aslam, muhammad \| Kandasamy, Nirosiya \| Ullah, Anwar \| Paramasivam, Nagarajan \| Öztürk, Mehmet Ali \| Naureen, Saima \| Arshad, Abida \| Badshah, Mazhar \| Khan, Kafaitullah \| Wajid, Muhammad \| Abbasi, Rashda \| Ilyas, Muhammad \| Eils, Roland \| Schlesner, Matthias \| Wade, Rebecca \| Ahmad, Nafees \| von Engelhardt, Jakob	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

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