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Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Bruels CC, Littel HR, Daugherty AL, Stafki S, Estrella EA, McGaughy ES, Truong D, Badalamenti JP, Pais L, Ganesh VS, O'Donnell-Luria A, Stalker HJ, Wang Y, Collins C, Behlmann A, Lemmers RJLF, van der Maarel SM, Laine R, Ghosh PS, Darras BT, Zingariello CD, Pacak CA, Kunkel LM, Kang PB. Bruels CC, et al. Ann Clin Transl Neurol. 2022 Aug;9(8):1302-1309. doi: 10.1002/acn3.51612. Epub 2022 Jun 23. Ann Clin Transl Neurol. 2022. PMID: 35734998 Free PMC article.
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Stafki SA, Turner J, Littel HR, Bruels CC, Truong D, Knirsch U, Stettner GM, Graf U, Berger W, Kinali M, Jungbluth H, Pacak CA, Hughes J, Mirchi A, Derksen A, Vincent-Delorme C, Theil AF, Bernard G, Ellis D, Fassihi H, Lehmann AR, Laugel V, Mohammed S, Kang PB. Stafki SA, et al. Pediatr Neurol. 2023 Apr;141:79-86. doi: 10.1016/j.pediatrneurol.2023.01.011. Epub 2023 Jan 24. Pediatr Neurol. 2023. PMID: 36791574 Free PMC article.
Impact and effectiveness of Rotavin-M1 under conditions of routine use in two provinces in Vietnam, 2016-2021, an observational and case-control study.
Van Trang N, Tate JE, Phuong Mai LT, Vu TD, Quyet NT, Thi Le LK, Thi Chu MN, Ngoc Tran MP, Thi Pham TP, Nguyen HT, Hien ND, Jiang B, Yen C, Tran DN, Anh DD, Parashar UD; Rotavin VE team. Van Trang N, et al. Lancet Reg Health West Pac. 2023 May 18;37:100789. doi: 10.1016/j.lanwpc.2023.100789. eCollection 2023 Aug. Lancet Reg Health West Pac. 2023. PMID: 37693867 Free PMC article.
49 results