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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
From phenotypes to black holes… and back 2020 . Camporota, Luigi \| Chiumello, Davide \| Busana, Mattia \| Romitti, Federica \| Gattinoni, Luciano	2020		http://purl.org/ontology/bibo/Article
A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease 2020 . Sepulveda-Falla, Diego \| Chavez-Gutierrez, Lucia \| Portelius, Erik \| Vélez, Jorge I. \| Dujardin, Simon \| Barrera-Ocampo, Alvaro \| Dinkel, Felix \| Hagel, Christian \| Puig, Berta \| Mastronardi, Claudio \| Lopera, Francisco \| Hyman, Bradley T. \| Blennow, Kaj \| Arcos-Burgos, Mauricio \| de Strooper, Bart \| Glatzel, Markus	2020		http://purl.org/ontology/bibo/Article
High level of EZH2 expression is linked to high density of CD8-positive T-lymphocytes and an aggressive phenotype in renal cell carcinoma 2020 . Eichenauer, Till \| Simmendinger, Luca \| Fraune, Christoph \| Mandelkow, Tim \| Blessin, Niclas C. \| Kluth, Martina \| Hube-Magg, Claudia \| Möller, Katharina \| Clauditz, Till \| Weidemann, Sören \| Dahlem, Roland \| Fisch, Margit \| Riechardt, Silke \| Simon, Ronald \| Sauter, Guido \| Büscheck, Franziska \| Rink, Michael	2020		http://purl.org/ontology/bibo/Article
Plasma cells, plasmablasts, and AID+/CD30+ B lymphoblasts inside and outside germinal centres: details of the basal light zone and the outer zone in human palatine tonsils 2020 . Steiniger, Birte S. \| Raimer, Linda \| Ecke, Anja \| Stuck, Boris A. \| Cetin, Yalcin	2020		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
A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy 2020 . Penkava, Josef \| Ledderose, S. \| Chahrokh-Zadeh, S. \| Munzig, A. \| Eulenburg, zu \| Huppert, D. \| Strupp, M. \| Becker-Bense, S.	2020		http://purl.org/ontology/bibo/Article
Single-cell mass cytometry of microglia in major depressive disorder reveals a non-inflammatory phenotype with increased homeostatic marker expression 2020 . Böttcher, Chotima \| Fernandez Zapata, Camila \| Snijders, Gijsje J. L. \| Schlickeiser, Stephan \| Sneeboer, Marjolein A. M. \| Kunkel, Desiree \| De Witte, Lot D. \| Priller, Josef	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
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered 2020 . Brinkmann, Julia \| Lissewski, Christina \| Pinna, Valentina \| Vial, Yoann \| Pantaleoni, Francesca \| Lepri, Francesca \| Daniele, Paola \| Burnyte, Birute \| Cuturilo, Goran \| Fauth, Christine \| Gezdirici, Alper \| Kotzot, Dieter \| Güleç, Elif Yılmaz \| Iotova, Violeta \| Schanze, Denny \| Ramond, Francis \| Havlovicová, Markéta \| Utine, Gulen Eda \| Simsek-Kiper, Pelin Ozlem \| Stoyanova, Milena \| VERLOES, Alain \| De Luca, Alessandro \| Tartaglia, Marco \| Cavé, Hélène \| Zenker, Martin	2020		http://purl.org/ontology/bibo/Article
The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification 2020 . Becker, Lena-Luise \| Dafsari, Hormos Salimi \| Schallner, Jens \| Abdin, Dalia \| Seifert, Michael \| petit, florence \| Smol, Thomas \| Bok, Levinus \| Rodan, Lance \| Krapels, Ingrid \| Spranger, Stephanie \| Weschke, Bernhard \| Johnson, Katherine \| Straub, Volker \| Kaindl, Angela M. \| Di Donato, Nataliya \| von der Hagen, Maja \| Cirak, Sebahattin	2020		http://purl.org/ontology/bibo/Article

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