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Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Garnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, Blankart CR, Gillner S, Zhao J, Roettger R, Saier C, Kirschner J, Schenk J, Atkins L, Ryan N, Zarakowska K, Zschüntzsch J, Zuccolo M, Müllenborn M, Man YS, Goodman L, Trad M, Chalandon AS, Sansen S, Martinez-Fresno M, Badger S, Walther van Olden R, Rothmann R, Lehner P, Tschohl C, Baillon L, Gumus G, Gross E, Stefanov R, Iskrov G, Raycheva R, Kostadinov K, Mitova E, Einhorn M, Einhorn Y, Schepers J, Hübner M, Alves F, Iskandar R, Mayer R, Renieri A, Piperkova A, Gut I, Beltran S, Matthiesen ME, Poetz M, Hansson M, Trollmann R, Agolini E, Ottombrino S, Novelli A, Bertini E, Selvatici R, Farnè M, Fortunato F, Ferlini A. Garnier N, et al. Among authors: zschuntzsch j. PLoS One. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023. PLoS One. 2023. PMID: 37992053 Free PMC article.
Human immunoglobulin G for experimental treatment of Duchenne muscular dystrophy.
Zschüntzsch J, Jouvenal P, Zhang Y, Klinker F, Tiburcy M, Malzahn D, Liebetanz D, Brinkmeier H, Schmidt J. Zschüntzsch J, et al. Clin Exp Immunol. 2014 Dec;178 Suppl 1(Suppl 1):132-3. doi: 10.1111/cei.12541. Clin Exp Immunol. 2014. PMID: 25546792 Free PMC article. No abstract available.
Myalgia in myositis and myopathies.
Glaubitz S, Schmidt K, Zschüntzsch J, Schmidt J. Glaubitz S, et al. Among authors: zschuntzsch j. Best Pract Res Clin Rheumatol. 2019 Jun;33(3):101433. doi: 10.1016/j.berh.2019.101433. Epub 2019 Oct 4. Best Pract Res Clin Rheumatol. 2019. PMID: 31590993 Review.
43 results