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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer MC. Almousa H, et al. Among authors: vemuri a. Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301. Brain. 2024. PMID: 37713627
Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation.
Heim J, Vemuri A, Lewis S, Guida B, Troester M, Keros S, Meredith A, Kruer MC. Heim J, et al. Among authors: vemuri a. Mov Disord Clin Pract. 2020 Aug 21;7(7):861-862. doi: 10.1002/mdc3.13024. eCollection 2020 Oct. Mov Disord Clin Pract. 2020. PMID: 33043086 Free PMC article. No abstract available.
Spectral imaging enables contrast agent-free real-time ischemia monitoring in laparoscopic surgery.
Ayala L, Adler TJ, Seidlitz S, Wirkert S, Engels C, Seitel A, Sellner J, Aksenov A, Bodenbach M, Bader P, Baron S, Vemuri A, Wiesenfarth M, Schreck N, Mindroc D, Tizabi M, Pirmann S, Everitt B, Kopp-Schneider A, Teber D, Maier-Hein L. Ayala L, et al. Among authors: vemuri a. Sci Adv. 2023 Mar 10;9(10):eadd6778. doi: 10.1126/sciadv.add6778. Epub 2023 Mar 10. Sci Adv. 2023. PMID: 36897951 Free PMC article.
Light source calibration for multispectral imaging in surgery.
Ayala L, Seidlitz S, Vemuri A, Wirkert SJ, Kirchner T, Adler TJ, Engels C, Teber D, Maier-Hein L. Ayala L, et al. Among authors: vemuri a. Int J Comput Assist Radiol Surg. 2020 Jul;15(7):1117-1125. doi: 10.1007/s11548-020-02195-y. Epub 2020 Jun 13. Int J Comput Assist Radiol Surg. 2020. PMID: 32535848 Free PMC article.
23 results