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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population 2024 . Mahdieh, Nejat \| Heidari, Morteza \| Rezaei, Zahra \| Tavasoli, Ali Reza \| Hosseinpour, Sareh \| Rasulinejad, Maryam \| Dehnavi, Ali Zare \| Ghahvechi Akbari, Masoud \| Badv, Reza Shervin \| Vafaei, Elahe \| Mohebbi, Ali \| Mohammadi, Pouria \| Hosseiny, Seyyed Mohammad Mahdi \| Azizimalamiri, Reza \| Nikkhah, Ali \| Pourbakhtyaran, Elham \| Rohani, Mohammad \| Khanbanha, Narges \| Nikbakht, Sedigheh \| Movahedinia, Mojtaba \| Karimi, Parviz \| Ghabeli, Homa \| Hosseini, Seyed Ahmad \| Rashidi, Fatemeh Sadat \| Garshasbi, Masoud \| Kashani, Morteza Rezvani \| Ghiasvand, Noor M. \| Zuchner, Stephan \| Synofzik, Matthis \| Ashrafi, Mahmoud Reza	2024		http://purl.org/ontology/bibo/Article
'Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders' 2024 . Martin, Sarah \| Jenewein, Tina \| Geisen, Christof \| Scheiper-Welling, Stefanie \| Kauferstein, Silke	2024		http://purl.org/ontology/bibo/Article
Beurteilung des Stellenwertes der neuropädiatrischen Diagnostik im Rahmen der initialen Autismusabklärung 2023 . Ruffing, Sarah \| Ullrich, Christine \| Flotats-Bastardas, Marina \| Poryo, Martin \| Meyer, Sascha	2023		http://purl.org/ontology/bibo/Article
Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19 2021 . Solanich, Xavier \| Vargas-Parra, Gardenia \| van der Made, Caspar I. \| Simons, Annet \| Schuurs-Hoeijmakers, Janneke \| Antolí, Arnau \| del Valle, Jesús \| Rocamora-Blanch, Gemma \| Setién, Fernando \| Esteller, Manel \| van Reijmersdal, Simon V. \| Riera-Mestre, Antoni \| Sabater-Riera, Joan \| Capellá, Gabriel \| van de Veerdonk, Frank L. \| van der Hoven, Ben \| Corbella, Xavier \| Hoischen, Alexander \| Lázaro, Conxi	2021		http://purl.org/ontology/bibo/Article
Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature 2021 . Hainz, Daniela \| Krüger, Marcus \| Reber, Daniela \| Mehnert, Karl \| Brunet, Theresa \| Lederer, Gabriele \| Langer-Freitag, Sabine \| Hoefele, Julia	2021		http://purl.org/ontology/bibo/Article
Review of guidelines for the identification and clinical care of patients with genetic predisposition for hematological malignancies 2021 . Schlegelberger, Brigitte \| Mecucci, Cristina \| Wlodarski, Marcin	2021		http://purl.org/ontology/bibo/Article
Cystic fibrosis in disguise – the wolf in sheep’s clothing, a case report 2021 . Wilbert, Friederike \| Grünert, Sarah C. \| Heinzmann, Andrea \| Bode, Sebastian	2021		http://purl.org/ontology/bibo/Article
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group 2021 . Frühwald, Michael \| Nemes, K. \| Boztug, H. \| Cornips, M. C. A. \| Evans, Gareth \| farah, roula \| Glentis, Stavros \| Jorgensen, M. \| Katsibardi, Katerina \| Hirsch, Steffen \| Jahnukainen, K. \| kventsel, iris \| Kerl, Kornelius \| Kratz, Christian \| Pajtler, Kristian W. \| Kordes, Uwe R. \| Ridola, Vita \| Stutz, E. \| BOURDEAUT, Franck	2021		http://purl.org/ontology/bibo/Article
Genome sequencing in families with congenital limb malformations 2021 . Elsner, Jonas \| Mensah, Martin A. \| Holtgrewe, Manuel \| Hertzberg, Jakob \| Bigoni, Stefania \| Busche, Andreas \| Coutelier, Marie \| de Silva, Deepthi C. \| Elçioglu, Nursel \| Filges, Isabel \| Gerkes, Erica \| Girisha, Katta M. \| Graul-Neumann, Luitgard \| Jamsheer, Aleksander \| Krawitz, Peter \| Kurth, Ingo \| Markus, Susanne \| Megarbane, Andre \| Reis, André \| Reuter, Miriam S. \| Svoboda, Daniel \| Teller, Christopher \| Tuysuz, Beyhan \| Türkmen, Seval \| Wilson, Meredith \| Woitschach, Rixa \| Vater, Inga \| Caliebe, Almuth \| Hülsemann, Wiebke \| Horn, Denise \| Mundlos, Stefan \| Spielmann, Malte	2021		http://purl.org/ontology/bibo/Article
The importance of genetic testing for dystonia patients and translational research 2021 . Pozojevic, Jelena \| Beetz, Christian \| Westenberger, Ana	2021		http://purl.org/ontology/bibo/Article

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