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An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Almeida LS, Pereira C, Aanicai R, Schröder S, Bochinski T, Kaune A, Urzi A, Spohr TCLS, Viceconte N, Oppermann S, Alasel M, Ebadat S, Iftikhar S, Jasinge E, Elsayed SM, Tomoum H, Marzouk I, Jalan AB, Cerkauskaite A, Cerkauskiene R, Tkemaladze T, Nadeem AM, El Din Mahmoud IG, Mossad FA, Kamel M, Selim LA, Cheema HA, Paknia O, Cozma C, Juaristi-Manrique C, Guatibonza-Moreno P, Böttcher T, Vogel F, Pinto-Basto J, Bertoli-Avella A, Bauer P. Almeida LS, et al. Among authors: oppermann s. Eur J Hum Genet. 2022 Sep;30(9):1029-1035. doi: 10.1038/s41431-022-01119-5. Epub 2022 May 25. Eur J Hum Genet. 2022. PMID: 35614200 Free PMC article.
At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
Guatibonza Moreno P, Pardo LM, Pereira C, Schroeder S, Vagiri D, Almeida LS, Juaristi C, Hosny H, Loh CCY, Leubauer A, Torres Morales G, Oppermann S, Iurașcu MI, Fischer S, Steinicke TM, Viceconte N, Cozma C, Kandaswamy KK, Pinto Basto J, Böttcher T, Bauer P, Bertoli-Avella A. Guatibonza Moreno P, et al. Among authors: oppermann s. Eur J Hum Genet. 2023 Oct;31(10):1108-1116. doi: 10.1038/s41431-023-01408-7. Epub 2023 Jul 11. Eur J Hum Genet. 2023. PMID: 37433892 Free PMC article.
Prevalence of Fabry Disease among Patients with Parkinson's Disease.
Lackova A, Beetz C, Oppermann S, Bauer P, Pavelekova P, Lorincova T, Ostrozovicova M, Kulcsarova K, Cobejova J, Cobej M, Levicka P, Liesenerova S, Sendekova D, Sukovska V, Gdovinova Z, Han V, Rizig M, Houlden H, Skorvanek M. Lackova A, et al. Among authors: oppermann s. Parkinsons Dis. 2022 Jan 24;2022:1014950. doi: 10.1155/2022/1014950. eCollection 2022. Parkinsons Dis. 2022. PMID: 35111290 Free PMC article.
Drug sensitivity profiling of 3D tumor tissue cultures in the pediatric precision oncology program INFORM.
Peterziel H, Jamaladdin N, ElHarouni D, Gerloff XF, Herter S, Fiesel P, Berker Y, Blattner-Johnson M, Schramm K, Jones BC, Reuss D, Turunen L, Friedenauer A, Holland-Letz T, Sill M, Weiser L, Previti C, Balasubramanian G, Gerber NU, Gojo J, Hutter C, Øra I, Lohi O, Kattamis A, de Wilde B, Westermann F, Tippelt S, Graf N, Nathrath M, Sparber-Sauer M, Sehested A, Kramm CM, Dirksen U, Kallioniemi O, Pfister SM, van Tilburg CM, Jones DTW, Saarela J, Pietiäinen V, Jäger N, Schlesner M, Kopp-Schneider A, Oppermann S, Milde T, Witt O, Oehme I. Peterziel H, et al. Among authors: oppermann s. NPJ Precis Oncol. 2022 Dec 27;6(1):94. doi: 10.1038/s41698-022-00335-y. NPJ Precis Oncol. 2022. PMID: 36575299 Free PMC article.
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