Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

22 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.
Himmelreich N, Dimitrov B, Zielonka M, Hüllen A, Hoffmann GF, Juenger H, Müller H, Lorenz I, Busse B, Marschall C, Schlüter G, Thiel C. Himmelreich N, et al. Among authors: juenger h. Mol Genet Metab. 2022 Aug;136(4):274-281. doi: 10.1016/j.ymgme.2022.06.005. Epub 2022 Jun 26. Mol Genet Metab. 2022. PMID: 35839600 Review.
Autoantibodies against interleukin-1 receptor antagonist in multisystem inflammatory syndrome in children: a multicentre, retrospective, cohort study.
Pfeifer J, Thurner B, Kessel C, Fadle N, Kheiroddin P, Regitz E, Hoffmann MC, Kos IA, Preuss KD, Fischer Y, Roemer K, Lohse S, Heyne K, Detemple MC, Fedlmeier M, Juenger H, Sauer H, Meyer S, Rohrer T, Wittkowski H, Becker SL, Masjosthusmann K, Bals R, Gerling S, Smola S, Bewarder M, Birk E, Keren A, Böhm M, Jakob A, Abdul-Khaliq H, Anton J, Kabesch M, Pino-Ramirez RM, Foell D, Thurner L. Pfeifer J, et al. Among authors: juenger h. Lancet Rheumatol. 2022 May;4(5):e329-e337. doi: 10.1016/S2665-9913(22)00064-9. Epub 2022 Mar 29. Lancet Rheumatol. 2022. PMID: 35368387 Free PMC article.
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA. Feichtinger RG, et al. Among authors: juenger h. Genet Med. 2019 Nov;21(11):2521-2531. doi: 10.1038/s41436-019-0532-z. Epub 2019 May 16. Genet Med. 2019. PMID: 31092906 Free article.
Fast semi-automated lesion demarcation in stroke.
de Haan B, Clas P, Juenger H, Wilke M, Karnath HO. de Haan B, et al. Among authors: juenger h. Neuroimage Clin. 2015 Jul 17;9:69-74. doi: 10.1016/j.nicl.2015.06.013. eCollection 2015. Neuroimage Clin. 2015. PMID: 26413473 Free PMC article.
22 results