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Quoted phrase not found in phrase index: "Leigh syndrome with leukodystrophy"
Page 1
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
OBJECTIVE: To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. DESIGN: Cohort study. SETTING: National Health Service, England, including secondary and tertiary care. ...Fourteen of the diagnoses (4% of …
OBJECTIVE: To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. …
Identification of diffuse and focal brain lesions by clinical magnetic resonance spectroscopy.
Kingsley PB, Shah TC, Woldenberg R. Kingsley PB, et al. NMR Biomed. 2006 Jun;19(4):435-62. doi: 10.1002/nbm.1039. NMR Biomed. 2006. PMID: 16763970 Review.
The purpose of this paper is to facilitate the comparison of magnetic resonance (MR) spectra acquired from unknown brain lesions with published spectra in order to help identify unknown lesions in clinical settings. The paper includes lists of references for published MR s …
The purpose of this paper is to facilitate the comparison of magnetic resonance (MR) spectra acquired from unknown brain lesions with publis …