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7 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
Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome 2021 . Schoof, Melanie \| Kordes, Uwe \| Volk, Alexander E. \| Al-Kershi, Sina \| Kresbach, Catena \| Schüller, Ulrich	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
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