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Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Neuser S, Krey I, Schwan A, Abou Jamra R, Bartolomaeus T, Döring J, Syrbe S, Plassmann M, Rohde S, Roth C, Rehder H, Radtke M, Le Duc D, Schubert S, Bermúdez-Guzmán L, Leal A, Schoner K, Popp B. Neuser S, et al. Among authors: plassmann m. Eur J Hum Genet. 2022 Jan;30(1):101-110. doi: 10.1038/s41431-021-00982-y. Epub 2021 Oct 25. Eur J Hum Genet. 2022. PMID: 34697416 Free PMC article.
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
Schoner K, Kohlhase J, Müller AM, Schramm T, Plassmann M, Schmitz R, Neesen J, Wieacker P, Rehder H. Schoner K, et al. Among authors: plassmann m. Prenat Diagn. 2013 Jan;33(1):75-80. doi: 10.1002/pd.4012. Epub 2012 Nov 13. Prenat Diagn. 2013. PMID: 23161355
Congenital Limb Defects: A Retrospective Cohort Study and Overview of the Literature.
Oelmeier K, Schmitz R, Dera I, Plaßmann M, Braun J, Willy D, Sourouni M, Köster HA, Steinhard J, Röpke A, Klockenbusch W, Möllers M. Oelmeier K, et al. Among authors: plassmann m. Ultraschall Med. 2023 Oct;44(5):e241-e247. doi: 10.1055/a-1926-7201. Epub 2022 Oct 5. Ultraschall Med. 2023. PMID: 36198323 English.
What is in the fish? Collaborative trial in suspect and non-target screening of organic micropollutants using LC- and GC-HRMS.
Dürig W, Lindblad S, Golovko O, Gkotsis G, Aalizadeh R, Nika MC, Thomaidis N, Alygizakis NA, Plassmann M, Haglund P, Fu Q, Hollender J, Chaker J, David A, Kunkel U, Macherius A, Belova L, Poma G, Preud'Homme H, Munschy C, Aminot Y, Jaeger C, Lisec J, Hansen M, Vorkamp K, Zhu L, Cappelli F, Roscioli C, Valsecchi S, Bagnati R, González B, Prieto A, Zuloaga O, Gil-Solsona R, Gago-Ferrero P, Rodriguez-Mozaz S, Budzinski H, Devier MH, Dierkes G, Boulard L, Jacobs G, Voorspoels S, Rüdel H, Ahrens L. Dürig W, et al. Among authors: plassmann m. Environ Int. 2023 Nov;181:108288. doi: 10.1016/j.envint.2023.108288. Epub 2023 Oct 25. Environ Int. 2023. PMID: 37918065 Free article.
Fluorine Mass Balance, including Total Fluorine, Extractable Organic Fluorine, Oxidizable Precursors, and Target Per- and Polyfluoroalkyl Substances, in Pooled Human Serum from the Tromsø Population in 1986, 2007, and 2015.
Cioni L, Plassmann M, Benskin JP, Coêlho ACMF, Nøst TH, Rylander C, Nikiforov V, Sandanger TM, Herzke D. Cioni L, et al. Among authors: plassmann m. Environ Sci Technol. 2023 Oct 10;57(40):14849-14860. doi: 10.1021/acs.est.3c03655. Epub 2023 Sep 25. Environ Sci Technol. 2023. PMID: 37747946 Free PMC article.
37 results