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Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10.
Hum Genet. 2022.
PMID: 34889978
Free PMC article.
Germline findings in patients with advanced malignancies screened with paired blood-tumour testing for personalised treatment approaches.
Roggia C, Armeanu-Ebinger S, Gschwind A, Seibel-Kelemen O, Hertler S, Faust U, Liebmann A, Haack TB, Neumann M, Bonzheim I, Forschner A, Kopp HG, Herster F, Hartkopf A, Bitzer M, Malek NP, Brecht IB, Ruhm K, Möller Y, Löwenheim H, Ossowski S, Rieß OH, Schroeder C.
Roggia C, et al. Among authors: riess oh.
Eur J Cancer. 2023 Jan;179:48-55. doi: 10.1016/j.ejca.2022.11.003. Epub 2022 Nov 8.
Eur J Cancer. 2023.
PMID: 36495689
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Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Nanetti L, Kearney M, Boesch S, Stovickova L, Ortigoza-Escobar JD, Macaya A, Gomez-Andres D, Roze E, Molnar MJ, Wolf NI, Darling A, Vasco G, Bertini E, Indelicato E, Neubauer D, Haack TB, Sagi JC, Danti FR, Sival D, Zanni G, Kolk A, Boespflug-Tanguy O, Schols L, van de Warrenburg B, Vidailhet M, Willemsen MA, Buizer AI, Orzes E, Ripp S, Reinhard C, Moroni I, Mariotti C; ERN-RND Working Group for Management of Transition.
Nanetti L, et al.
Neurol Sci. 2024 Mar;45(3):1007-1016. doi: 10.1007/s10072-023-07101-3. Epub 2023 Oct 19.
Neurol Sci. 2024.
PMID: 37853291
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PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study.
Gonsior K, Kaucher GA, Pelz P, Schumann D, Gansel M, Kuhs S, Klockgether T, Forlani S, Durr A, Hauser S, Rattay TW, Synofzik M, Hengel H, Schöls L, Rieß OH, Hübener-Schmid J.
Gonsior K, et al. Among authors: riess oh.
J Neurol. 2021 Apr;268(4):1304-1315. doi: 10.1007/s00415-020-10274-y. Epub 2020 Oct 26.
J Neurol. 2021.
PMID: 33106888
Free PMC article.
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