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Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.
Mütze U, Bürger F, Hoffmann J, Tegetmeyer H, Heichel J, Nickel P, Lemke JR, Syrbe S, Beblo S. Mütze U, et al. Among authors: hoffmann j. Mol Genet Metab Rep. 2016 Dec 1;10:1-4. doi: 10.1016/j.ymgmr.2016.11.004. eCollection 2017 Mar. Mol Genet Metab Rep. 2016. PMID: 27942463 Free PMC article.
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group. Otto EA, et al. J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068128 Free PMC article.
Management of race, ethnicity, and language data in the pediatric emergency department.
Gutman CK, Hartford EA, Gifford S, Ford V, Bouvay K, Pickett ML, Tran TT, Molyneaux Slade ND, Piroutek MJ, Chung S, Roach B, Hincapie M, Hoffmann JA, Lin K, Kotler H, Pulcini C, Rose JA, Bergmann KR, Cheng T, St Pierre Hetz R, Yan X, Lou XY, Fernandez R, Aronson PL, Lion KC; Pediatric Emergency Medicine Collaborative Research Committee Febrile Infants and Health Disparities Study Group. Gutman CK, et al. Among authors: hoffmann ja. Acad Emerg Med. 2024 May 29. doi: 10.1111/acem.14947. Online ahead of print. Acad Emerg Med. 2024. PMID: 38808384 No abstract available.
Highlights vom DGP-Kongress 2024 aus Sicht der YoungDGP.
Buschulte K, Büscher E, Franzen K, Frille A, Groth E, Hoffmann J, Knaack A, Krönig J, Lederer C, Leuschner G, Pappe E, Sicker N, Wilkens F, Fisser C. Buschulte K, et al. Among authors: hoffmann j. Pneumologie. 2024 May;78(5):295-301. doi: 10.1055/a-2298-6312. Epub 2024 May 17. Pneumologie. 2024. PMID: 38759700 German. No abstract available.
2,544 results