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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
The natural history of Canavan disease: 23 new cases and comparison with patients from literature 2021 . Bley, Annette \| Denecke, Jonas \| Kohlschütter, Alfried \| Schön, Gerhard \| Hischke, Sandra \| Guder, Philipp \| Bierhals, Tatjana \| Lau, Heather \| Hempel, Maja \| Eichler, Florian S.	2021		http://purl.org/ontology/bibo/Article
Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE 2021 . Druschke, Diana \| Krause, F. \| Müller, G. \| Scharfe, J. \| Hoffmann, G. F. \| Schmitt, J.	2021		http://purl.org/ontology/bibo/Article
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results 2021 . Bassanese, Giulia \| Wlodkowski, Tanja \| Servais, Aude \| Heidet, Laurence \| Roccatello, Dario \| Emma, Francesco \| Levtchenko, Elena \| Ariceta, Gema \| Bacchetta, Justine \| Capasso, Giovambattista \| Jankauskiene, Augustina \| Miglinas, Marius \| Ferraro, Pietro Manuel \| Montini, Giovanni \| Oh, Jun \| Decramer, Stephane \| Levart, Tanja Kersnik \| Wetzels, Jack \| Cornelissen, Elisabeth \| Devuyst, Olivier \| Zurowska, Aleksandra \| Pape, Lars \| Buescher, Anja \| Haffner, Dieter \| Marcun Varda, Natasa \| Ghiggeri, Gian Marco \| Remuzzi, Giuseppe \| Konrad, Martin \| Longo, Germana \| Bockenhauer, Detlef \| Awan, Atif \| Andersone, Ilze \| Groothoff, Jaap W. \| Schaefer, Franz	2021		http://purl.org/ontology/bibo/Article
Myocardial strain analysis using cardiac magnetic resonance in patients with calpainopathy 2021 . Quick, Silvio \| Winkler, Max \| Speiser, Uwe \| Ibrahim, Karim \| Schäfer, Jochen \| Linke, Axel \| Zhang, Kun \| Christoph, Marian \| Heidrich, Felix M.	2021		http://purl.org/ontology/bibo/Article
Rare pediatric diseases and pathways to psychosocial care: a qualitative interview study with professional experts working with affected families in Germany 2021 . Witt, Stefanie \| Kristensen, Kaja \| Wiegand-Grefe, Silke \| Boettcher, Johannes \| Bloemeke, Janika \| Wingartz, Christina \| Bullinger, Monika \| Quitmann, Julia	2021		http://purl.org/ontology/bibo/Article
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study 2021 . Grau, Janina \| Zöllner, Johann Philipp \| Schubert-Bast, Susanne \| Kurlemann, Gerhard \| Hertzberg, Christoph \| Wiemer-Kruel, Adelheid \| Bast, Thomas \| Bertsche, Astrid \| Bettendorf, Ulrich \| Fiedler, Barbara \| Hahn, Andreas \| Hartmann, Hans \| Hornemann, Frauke \| Immisch, Ilka \| Jacobs, Julia \| Kieslich, Matthias \| Klein, Karl Martin \| Klotz, Kerstin A. \| Kluger, Gerhard \| Knuf, Markus \| Mayer, Thomas \| Marquard, Klaus \| Meyer, Sascha \| Muhle, Hiltrud \| Müller-Schlüter, Karen \| Noda, Anna H. \| Ruf, Susanne \| Sauter, Matthias \| Schlump, Jan-Ulrich \| Syrbe, Steffen \| Thiels, Charlotte \| Trollmann, Regina \| Wilken, Bernd \| Willems, Laurent M. \| Rosenow, Felix \| Strzelczyk, Adam	2021		http://purl.org/ontology/bibo/Article
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome 2021 . Meyer, Robert \| Begemann, Matthias \| Hübner, Christian Thomas \| Dey, Daniela \| Kuechler, Alma \| Elgizouli, Magdeldin \| Schara, Ulrike \| Ambrozaityte, Laima \| Burnyte, Birute \| Schröder, Carmen \| Kenawy, Asmaa \| Kroisel, Peter \| Demuth, Stephanie \| Fekete, Gyorgy \| Opladen, Thomas \| Elbracht, Miriam \| Eggermann, Thomas	2021		http://purl.org/ontology/bibo/Article
Potential clinical utility of MUC5B und TOLLIP single nucleotide polymorphisms (SNPs) in the management of patients with IPF 2021 . Bonella, Francesco \| Campo, Ilaria \| Zorzetto, Michele \| Boerner, Eda \| Ohshimo, Shinichiro \| Theegarten, Dirk \| Taube, Christian \| Costabel, Ulrich	2021		http://purl.org/ontology/bibo/Article
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy 2021 . Reinert, Marie-Christine \| Pacheu-Grau, David \| Catarino, Claudia B. \| Klopstock, Thomas \| Ohlenbusch, Andreas \| Schittkowski, Michael \| Wilichowski, Ekkehard \| Rehling, Peter \| Brockmann, Knut	2021		http://purl.org/ontology/bibo/Article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum 2021 . Hüffmeier, Ulrike \| Kraus, Cornelia \| Reuter, Miriam S. \| Uebe, Steffen \| Abbott, Mary-Alice \| Ahmed, Syed A. \| Rawson, Kristyn L. \| Barr, Eileen \| Li, Hong \| Bruel, Ange-Line \| Faivre, Laurence \| Tran Mau-Them, Frédéric \| Botti, Christina \| Brooks, Susan \| Burns, Kaitlyn \| Ward, D. Isum \| Dutra-Clarke, Marina \| Martinez-Agosto, Julian A. \| Lee, Hane \| Nelson, Stanley F. \| Zacher, Pia \| Abou Jamra, Rami \| Klöckner, Chiara \| McGaughran, Julie \| Kohlhase, Jürgen \| Schuhmann, Sarah \| Moran, Ellen \| Pappas, John \| Raas-Rothschild, Annick \| Sacoto, Maria J. Guillen \| Henderson, Lindsay B. \| Palculict, Timothy Blake \| Mullegama, Sureni V. \| Zghal Elloumi, Houda \| Reich, Adi \| Schrier Vergano, Samantha A. \| Wahl, Erica \| Reis, André \| Zweier, Christiane	2021		http://purl.org/ontology/bibo/Article

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