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9 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses 2024 . UNG, Dévina \| Pietrancosta, Nicolas \| Baz-Badillo, Elena \| Raux, Brigitt \| Tapken, Daniel \| Zlatanovic, Andjela \| Doridant, Adrien \| Pode-Shakked, Ben \| Raas-Rothschild, Annick \| Elpeleg, Orly \| Abu-Libdeh, Bassam \| Hamed, Nasrin \| Papon, Marie-Amélie \| Marouillat, Sylviane \| Thépault, Rose-Anne \| Stevanin, Giovanni \| Elegheert, Jonathan \| Letellier, Mathieu \| Hollmann, Michael \| lambolez, bertrand \| Tricoire, Ludovic \| Toutain, Annick \| HEPP, regine \| Laumonnier, Frédéric	2024		http://purl.org/ontology/bibo/Article
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti 2024 . Eigemann, Jessica \| Janda, Ales \| Schuetz, Catharina \| Lee-Kirsch, Min Ae \| Schulz, Ansgar \| Hoenig, Manfred \| Furlan, Ingrid \| Jacobsen, Eva-Maria \| Zinngrebe, Julia \| Peters, Sarah \| Drewes, Cosima \| Siebert, Reiner \| Rump, Eva-Maria \| Führer, Marita \| Lorenz, Myriam \| Pannicke, Ulrich \| Kölsch, Uwe \| Debatin, Klaus-Michael \| von Bernuth, Horst \| Schwarz, Klaus \| Felgentreff, Kerstin	2024		http://purl.org/ontology/bibo/Article
Integrative study of EZH2 mutational status, copy number, protein expression and H3K27 trimethylation in AML/MDS patients 2021 . Stomper, Julia \| Meier, Ruth \| Ma, Tobias \| Pfeifer, Dietmar \| Ihorst, Gabriele \| Blagitko-Dorfs, Nadja \| Greve, Gabriele \| Zimmer, Dennis \| Platzbecker, Uwe \| Hagemeijer, Anne \| Schmitt-Graeff, Ingrid \| Lübbert, Michael	2021		http://purl.org/ontology/bibo/Article
Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas 2021 . Hübschmann, Daniel \| Kleinheinz, Kortine \| Wagener, Rabea \| Bernhart, Stephan H. \| López, Cristina \| Toprak, Umut H. \| Sungalee, Stephanie \| Ishaque, Naveed \| Kretzmer, Helene \| Kreuz, Markus \| Waszak, Sebastian \| Paramasivam, Nagarajan \| Ammerpohl, Ole \| Aukema, Sietse M \| Beekman, Renée \| Bergmann, Anke K. \| Bieg, Matthias \| Binder, Hans \| Borkhardt, Arndt \| Borst, Christoph \| Brors, Benedikt \| Bruns, Philipp \| CARRILLO DE SANTA PAU, ENRIQUE \| Claviez, Alexander \| Doose, Gero \| Haake, Andrea \| Karsch, Dennis \| Haas, Siegfried \| Hansmann, Martin-Leo \| Hoell, Jessica I. \| Hovestadt, Volker \| Huang, Bingding \| Hummel, Michael \| Jäger-Schmidt, Christina \| Kerssemakers, Jules \| Korbel, Jan \| Kube, Dieter \| Lawerenz, Chris \| Lenze, Dido \| Martens, Joost H. A. \| Ott, German \| Radlwimmer, Bernhard \| Reisinger, Eva \| Richter, Julia \| Rico, Daniel \| Rosenstiel, Philip \| Rosenwald, Andreas \| Schillhabel, Markus \| Stilgenbauer, Stephan \| Stadler, Peter F. \| Martin-Subero, Jose Ignacio \| Szczepanowski, Monika \| Warsow, Gregor \| Weniger, Marc A. \| Zapatka, Marc \| Valencia, Alfonso \| Stunnenberg, Hendrik G. \| Lichter, Peter \| Möller, Peter \| Loeffler, Markus \| Eils, Roland \| Klapper, Wolfram \| Hoffmann, Steve \| Trümper, Lorenz \| Küppers, Ralf \| Schlesner, Matthias \| Siebert, Reiner	2021		http://purl.org/ontology/bibo/Article
Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia 2021 . Nolte, Dagmar \| Kang, Jun-Suk \| Hofmann, Amrei \| Schwaab, Eva \| Krämer, Heidrun H. \| Müller, Ulrich	2021		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
IDH1/2 mutations in acute myeloid leukemia patients and risk of coronary artery disease and cardiac dysfunction—a retrospective propensity score analysis 2020 . Kattih, Badder \| Shirvani, Amir \| Klement, Piroska \| Garrido, Abel Martin \| Gabdoulline, Razif \| Liebich, Alessandro \| Brandes, Maximilian \| Chaturvedi, Anuhar \| Seeger, Timon \| Thol, Felicitas \| Göhring, Gudrun \| Schlegelberger, Brigitte \| Geffers, Robert \| John, David \| Bavendiek, Udo \| Bauersachs, Johann \| Ganser, Arnold \| Heineke, Joerg \| Heuser, Michael	2020		http://purl.org/ontology/bibo/Article
Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis 2020 . Suwala, Abigail K. \| Stichel, Damian \| Schrimpf, Daniel \| Kloor, Matthias \| Wefers, Annika K. \| Reinhardt, Annekathrin \| Maas, Sybren L. N. \| Kratz, Christian P. \| Schweizer, Leonille \| Hasselblatt, Martin \| Snuderl, Matija \| Abedalthagafi, Malak Sameer J. \| Abdullaev, Zied \| Monoranu, Camelia M. \| Bergmann, Markus \| Pekrun, Arnulf \| Freyschlag, Christian \| Aronica, Eleonora \| Kramm, Christof M. \| Hinz, Felix \| Sievers, Philipp \| Korshunov, Andrey \| Kool, Marcel \| Pfister, Stefan M. \| Sturm, Dominik \| Jones, David T. W. \| Wick, Wolfgang \| Unterberg, Andreas \| Hartmann, Christian \| Dodgshun, Andrew \| Tabori, Uri \| Wesseling, Pieter \| Sahm, Felix \| von Deimling, Andreas \| Reuß, David	2020		http://purl.org/ontology/bibo/Article
Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases 2020 . Holdhof, Dörthe \| Johann, Pascal D. \| Spohn, Michael \| Bockmayr, Michael \| Safaei, Sepehr \| Joshi, Piyush \| Masliah-Planchon, Julien \| Ho, Ben \| Andrianteranagna, Mamy \| Bourdeaut, Franck \| Huang, Annie \| Kool, Marcel \| Upadhyaya, Santhosh A. \| Bendel, Anne E. \| Indenbirken, Daniela \| Foulkes, William D. \| Bush, Jonathan W. \| Creytens, David \| Kordes, Uwe \| Frühwald, Michael C. \| Hasselblatt, Martin \| Schüller, Ulrich	2020		http://purl.org/ontology/bibo/Article