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10 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions 2023 . Tschernoster, Nikolai \| Erger, Florian \| Kohl, Stefan \| Reusch, Björn \| Wenzel, Andrea \| Walsh, Stephen \| Thiele, Holger \| Becker, Christian \| Franitza, Marek \| Bartram, Malte P. \| Kömhoff, Martin \| Schumacher, Lena \| Kukat, Christian \| Borodina, Tatiana \| Quedenau, Claudia \| Nürnberg, Peter \| Rinschen, Markus M \| Driller, Jan H. \| Pedersen, Bjørn P. \| Schlingmann, Karl P. \| Hüttel, Bruno \| Bockenhauer, Detlef \| Beck, Bodo \| Altmüller, Janine	2023		http://purl.org/ontology/bibo/Article
Biallelic variants in YRDC cause a developmental disorder with progeroid features 2021 . Schmidt, Julia \| Goergens, Jonas \| Pochechueva, Tatiana \| Kotter, Annika \| Schwenzer, Niko \| Sitte, Maren \| Werner, Gesa \| Altmüller, Janine \| Thiele, Holger \| Nürnberg, Peter \| Isensee, Jörg \| Li, Yun \| Müller, Christian \| Leube, Barbara \| Reinhardt, H. Christian \| Hucho, Tim \| Salinas, Gabriela \| Helm, Mark \| Jachimowicz, Ron D. \| Wieczorek, Dagmar \| Kohl, Tobias \| Lehnart, Stephan E. \| Yigit, Gökhan \| Wollnik, Bernd	2021		http://purl.org/ontology/bibo/Article
Clonal dynamics of BRAF-driven drug resistance in EGFR-mutant lung cancer 2021 . Schaufler, Diana \| Ast, David \| Tumbrink, Hannah L. \| Abedpour, Nima \| Maas, Lukas \| , Ayla Elina \| Spille, Inga \| Lennartz, Stefanie \| Fassunke, Jana \| Aldea, Mihaela \| Besse, Benjamin \| Planchard, David \| Nogova, Lucia \| Michels, Sebastian \| Kobe, Carsten \| Persigehl, Thorsten \| Westphal, Theresa \| Koleczko, Sophia \| Fischer, Rieke \| Weber, Jan-Phillip \| Altmüller, Janine \| Thomas, Roman K. \| Merkelbach-Bruse, Sabine \| Gautschi, Oliver \| Mezquita, Laura \| Büttner, Reinhard \| Wolf, Jürgen \| Peifer, Martin \| Brägelmann, Johannes \| Scheffler, Matthias \| Sos, Martin	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
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants 2021 . Kloth, Katja \| Lozic, Bernarda \| Tagoe, Julia \| Hoffer, Mariëtte J. V. \| Van der Ven, Amelie \| Thiele, Holger \| Altmüller, Janine \| Kubisch, Christian \| Au, Ping Yee Billie \| Denecke, Jonas \| Bijlsma, Emilia K. \| Lessel, Davor	2021		http://purl.org/ontology/bibo/Article
Disease severity-specific neutrophil signatures in blood transcriptomes stratify COVID-19 patients 2021 . Aschenbrenner, Anna C. \| Mouktaroudi, Maria \| Krämer, Benjamin \| Oestreich, Marie \| Antonakos, Nikolaos \| Nuesch-Germano, Melanie \| Gkizeli, Konstantina \| Bonaguro, Lorenzo \| Reusch, Nico \| Baßler, Kevin \| Saridaki, Maria \| Knoll, Rainer \| Pecht, Tal \| Kapellos, Theodore S. \| Doulou, Sarandia \| Kröger, Charlotte \| Herbert, Miriam \| Holsten, Lisa \| Horne, Arik \| Gemünd, Ioanna D. \| Rovina, Nikoletta \| Agrawal, Shobhit \| Dahm, Kilian \| van Uelft, Martina \| Drews, Anna \| Lenkeit, Lena \| Bruse, Niklas \| Gerretsen, Jelle \| Gierlich, Jannik \| Becker, Matthias \| Händler, Kristian \| Kraut, Michael \| Theis, Heidi \| Mengiste, Simachew \| De Domenico, Elena \| Schulte-Schrepping, Jonas \| Seep, Lea \| Raabe, Jan \| Hoffmeister, Christoph \| ToVinh, Michael \| Keitel, Verena \| Rieke, Gereon \| Talevi, Valentina \| Skowasch, Dirk \| Aziz, N. Ahmad \| Pickkers, Peter \| van de Veerdonk, Frank L. \| Netea, Mihai G. \| Kox, Matthijs \| Breteler, Monique M. B. \| Nattermann, Jacob \| Koutsoukou, Antonia \| Giamarellos-Bourboulis, Evangelos J. \| Ulas, Thomas \| Altmüller, Janine \| Angelov, Angel \| Bals, Robert \| Bartholomäus, Alexander \| Becker, Anke \| Bitzer, Michael \| Bonifacio, Ezio \| Bork, Peer \| Casadei, Nicolas \| Clavel, Thomas \| Colome-Tatche, Maria \| Diefenbach, Andreas \| Dilthey, Alexander \| Fischer, Nicole \| Förstner, Konrad \| Franzenburg, Sören \| Frick, Julia-Stefanie \| Gabernet, Gisela \| Gagneur, Julien \| Ganzenmüller, Tina \| Göpel, Siri \| Goesmann, Alexander \| Hain, Torsten \| Heimbach, André \| Hummel, Michael \| Iftner, Angelika \| Iftner, Thomas \| Janssen, Stefan \| Kalinowski, Jörn \| Kallies, René \| Kehr, Birte \| Keller, Andreas \| Kim-Hellmuth, Sarah \| Klein, Christoph \| Kohlbacher, Oliver \| Köhrer, Karl \| Korbel, Jan \| Kühnert, Denise \| Kurth, Ingo \| Landthaler, Markus \| Li, Yang \| Ludwig, Kerstin \| Makarewicz, Oliwia \| Marz, Manja \| McHardy, Alice \| Mertes, Christian \| Nöthen, Markus \| Nürnberg, Peter \| Ohler, Uwe \| Ossowski, Stephan \| Overmann, Jörg \| Pfeffer, Klaus \| Poetsch, Anna R. \| Pühler, Alfred \| Rajewsky, Nikolaus \| Ralser, Markus \| Rieß, Olaf \| Ripke, Stephan \| Nunes da Rocha, Ulisses \| Rosenstiel, Philip \| Saliba, Antoine-Emmanuel \| Sander, Leif Erik \| Sawitzki, Birgit \| Schiffer, Philipp \| Schneider, Wulf \| Schulte, Eva-Christina \| Schultze, Joachim L. \| Sczyrba, Alexander \| Singh, Yogesh \| Sonnabend, Michael \| Stegle, Oliver \| Stoye, Jens \| Theis, Fabian \| Vehreschild, Janne \| Vogel, Jörg \| von Kleist, Max \| Walker, Andreas \| Walter, Jörn \| Wieczorek, Dagmar \| Winkler, Sylke \| Ziebuhr, John	2021		http://purl.org/ontology/bibo/Article
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome 2020 . Ufartes, Roser \| Berger, Hanna \| Till, Katharina \| Salinas, Gabriela \| Sturm, Marc \| Altmüller, Janine \| Nürnberg, Peter \| Thiele, Holger \| Funke, Rudolf \| Apeshiotis, Neophytos \| Langen, Hendrik \| Wollnik, Bernd \| Borchers, Annette \| , Silke	2020		http://purl.org/ontology/bibo/Article
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage 2020 . Sauvigny, Thomas \| Alawi, Malik \| Krause, Linda \| Renner, Sina \| Spohn, Michael \| Busch, Alice \| Kolbe, Verena \| Altmüller, Janine \| Löscher, Britt-Sabina \| Franke, Andre \| Brockmann, Christian \| Lieb, Wolfgang \| Westphal, Manfred \| Schmidt, Nils Ole \| Regelsberger, Jan \| Rosenberger, Georg	2020		http://purl.org/ontology/bibo/Article
Trigeminal Ganglion Neurons of Mice Show Intracellular Chloride Accumulation and Chloride-Dependent Amplification of Capsaicin-Induced Responses 2012 . Schöbel, Nicole \| Radtke, Debbie \| Lübbert, Matthias \| Gisselmann, Günter \| Lehmann, Ramona \| Cichy, Annika \| Schreiner, Benjamin S. P. \| Altmüller, Janine \| Spector, Alan C. \| Spehr, Jennifer \| Hatt, Hanns \| Wetzel, Christian H.	2012		http://purl.org/ontology/bibo/Article
X Chromosomal Variation Is Associated with Slow Progression to AIDS in HIV-1-Infected Women 2009 . Siddiqui, Roman A. \| Sauermann, Ulrike \| Altmüller, Janine \| Fritzer, Elfriede \| Nothnagel, Michael \| Dalibor, Nina \| Fellay, Jacques \| Kaup, Franz-Josef \| Stahl-Hennig, Christiane \| Nürnberg, Peter \| Krawczak, Michael \| Platzer, Matthias	2009		http://purl.org/ontology/bibo/Article