Fachrepositorium Lebenswissenschaften | Freier Zugang zu Wissensressourcen aus den Lebenswissenschaften

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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
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
Genetics of diaphragmatic hernia 2021 . Schreiner, Yannick \| Schaible, Thomas \| Rafat, Neysan	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
Clinical utility gene card for: Long-QT syndrome 2021 . Beckmann, Britt Maria \| Scheiper-Welling, Stefanie \| Wilde, Arthur A. M. \| Kääb, Stefan \| Schulze-Bahr, Eric \| Kauferstein, Silke	2021		http://purl.org/ontology/bibo/Article
Reconstructing clonal evolution in relapsed and non-relapsed Burkitt lymphoma 2020 . Reutter, Katrin \| Sandmann, Sarah \| Rohde, Jonas \| Müller, Stephanie \| Wöste, Marius \| Khanam, Tasneem \| Michgehl, Ulf \| Klapper, Wolfram \| Wößmann, Wilhelm \| Seggewiß, Jochen \| Lenz, Georg \| Dugas, Martin \| Burkhardt, Birgit	2020		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

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