Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsStaufner, Christian ; Haack, Tobias B. ; Köpke, Marlies G. ; Straub, Beate K. ; Kölker, Stefan ; Thiel, Christian ; Freisinger, Peter ; Baric, Ivo ; McKiernan, Patrick J. ; Dikow, Nicola ; Harting, Inga ; Beisse, Flemming ; Burgard, Peter ; Kotzaeridou, Urania ; Lenz, Dominic ; Kühr, Joachim ; Himbert, Urban ; Taylor, Robert W. ; Distelmaier, Felix ; Vockley, Jerry ; Ghaloul-Gonzalez, Lina ; Ozolek, John A. ; Zschocke, Johannes ; Kuster, Alice ; Dick, Anke ; Das, Anib M. ; Wieland, Thomas ; Terrile, Caterina ; Strom, Tim M. ; Meitinger, Thomas ; Prokisch, Holger ; Hoffmann, Georg F.Journal of inherited metabolic disease, 2016-01, Vol.39 (1), p.3-16 [Periódico revisado por pares]Dordrecht: Springer NetherlandsTexto completo disponível |
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2 |
Material Type: Artigo
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NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell DeficiencyLenz, Dominic ; Pahl, Jens ; Hauck, Fabian ; Alameer, Seham ; Balasubramanian, Meena ; Baric, Ivo ; Boy, Nikolas ; Church, Joseph A. ; Crushell, Ellen ; Dick, Anke ; Distelmaier, Felix ; Gujar, Jidnyasa ; Indolfi, Giuseppe ; Lurz, Eberhard ; Peters, Bianca ; Schwerd, Tobias ; Serranti, Daniele ; Kölker, Stefan ; Klein, Christoph ; Hoffmann, Georg F. ; Prokisch, Holger ; Greil, Johann ; Cerwenka, Adelheid ; Giese, Thomas ; Staufner, ChristianJournal of clinical immunology, 2021-11, Vol.41 (8), p.1781-1793 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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3 |
Material Type: Artigo
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MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspectsEl‐Hattab, Ayman W. ; Wang, Julia ; Dai, Hongzheng ; Almannai, Mohammed ; Staufner, Christian ; Alfadhel, Majid ; Gambello, Michael J. ; Prasun, Pankaj ; Raza, Saleem ; Lyons, Hernando J. ; Afqi, Manal ; Saleh, Mohammed A. M. ; Faqeih, Eissa A. ; Alzaidan, Hamad I. ; Alshenqiti, Abduljabbar ; Flore, Leigh Anne ; Hertecant, Jozef ; Sacharow, Stephanie ; Barbouth, Deborah S. ; Murayama, Kei ; Shah, Amit A. ; Lin, Henry C. ; Wong, Lee‐Jun C.Human mutation, 2018-04, Vol.39 (4), p.461-470 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |
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4 |
Material Type: Artigo
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Expression of glutamate receptor subunits in human cancersStepulak, Andrzej ; Luksch, Hella ; Gebhardt, Christine ; Uckermann, Ortrud ; Marzahn, Jenny ; Sifringer, Marco ; Rzeski, Wojciech ; Staufner, Christian ; Brocke, Katja S. ; Turski, Lechoslaw ; Ikonomidou, ChrysanthyHistochemistry and cell biology, 2009-10, Vol.132 (4), p.435-445 [Periódico revisado por pares]Berlin/Heidelberg: Springer-VerlagTexto completo disponível |
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Material Type: Artigo
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DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic AciduriaDanhauser, Katharina ; Sauer, Sven W. ; Haack, Tobias B. ; Wieland, Thomas ; Staufner, Christian ; Graf, Elisabeth ; Zschocke, Johannes ; Strom, Tim M. ; Traub, Thorsten ; Okun, Jürgen G. ; Meitinger, Thomas ; Hoffmann, Georg F. ; Prokisch, Holger ; Kölker, StefanAmerican journal of human genetics, 2012-12, Vol.91 (6), p.1082-1087 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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6 |
Material Type: Artigo
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Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic optionsStaufner, Christian ; Lindner, Martin ; Dionisi-Vici, Carlo ; Freisinger, Peter ; Dobbelaere, Dries ; Douillard, Claire ; Makhseed, Nawal ; Straub, Beate K. ; Kahrizi, Kimia ; Ballhausen, Diana ; la Marca, Giancarlo ; Kölker, Stefan ; Haas, Dorothea ; Hoffmann, Georg F. ; Grünert, Sarah C. ; Blom, Henk J.Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.273-283 [Periódico revisado por pares]Dordrecht: Springer NetherlandsTexto completo disponível |
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7 |
Material Type: Artigo
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aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessmentSchröter, Julian ; Dattner, Tal ; Hüllein, Jennifer ; Jayme, Alejandra ; Heuveline, Vincent ; Hoffmann, Georg F. ; Kölker, Stefan ; Lenz, Dominic ; Opladen, Thomas ; Popp, Bernt ; Schaaf, Christian P. ; Staufner, Christian ; Syrbe, Steffen ; Uhrig, Sebastian ; Hübschmann, Daniel ; Brennenstuhl, HeikoComputational and structural biotechnology journal, 2023-01, Vol.21, p.1077-1083 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
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8 |
Material Type: Artigo
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Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBASPeters, Bianca ; Wiemers, Felix ; Lenz, Dominic ; Kölker, Stefan ; Hoffmann, Georg F. ; Köhler, Siegmund ; Staufner, ChristianJIMD reports, 2023-05, Vol.64 (3), p.246-251 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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9 |
Material Type: Artigo
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AMPA Receptor Antagonist CFM-2 Decreases Survivin Expression in Cancer CellsRuiz, Domingo Sanchez ; Luksch, Hella ; Sifringer, Marco ; Temme, Achim ; Staufner, Christian ; Rzeski, Wojciech ; Marzahn, Jenny ; Grabarska, Aneta ; Ikonomidou, Chrysanthy ; Stepulak, AndrzejAnti-cancer agents in medicinal chemistry, 2018-01, Vol.18 (4), p.591-596 [Periódico revisado por pares]Netherlands: Bentham Science Publishers LtdTexto completo disponível |
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10 |
Material Type: Artigo
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Glutamate receptors in pediatric tumors of the central nervous systemBrocke, Katja S. ; Staufner, Christian ; Luksch, Hella ; Geiger, Kathrin D. ; Stepulak, Andrzej ; Marzahn, Jenny ; Schackert, Gabriele ; Temme, Achim ; Ikonomidou, ChrysanthyCancer biology & therapy, 2010-03, Vol.9 (6), p.455-468 [Periódico revisado por pares]United States: Taylor & FrancisTexto completo disponível |