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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: turnbull dm, turnbull c. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Treatment of mitochondrial disease.
Taylor RW, Chinnery PF, Clark KM, Lightowlers RN, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. J Bioenerg Biomembr. 1997 Apr;29(2):195-205. doi: 10.1023/a:1022646215643. J Bioenerg Biomembr. 1997. PMID: 9239544 Review.
Mitochondrial medicine.
Chinnery PF, Turnbull DM. Chinnery PF, et al. Among authors: turnbull dm. QJM. 1997 Nov;90(11):657-67. doi: 10.1093/qjmed/90.11.657. QJM. 1997. PMID: 9474346 Review. No abstract available.
Vomiting, anorexia, and mitochondrial DNA disease.
Chinnery PF, Turnbull DM. Chinnery PF, et al. Among authors: turnbull dm. Lancet. 1998 Feb 7;351(9100):448. doi: 10.1016/S0140-6736(05)78396-3. Lancet. 1998. PMID: 9482334 No abstract available.
Mitochondrial genotype and clinical phenotype.
Chinnery PF, Turnbull DM. Chinnery PF, et al. Among authors: turnbull dm. J Inherit Metab Dis. 1998 Jun;21(4):321-5. doi: 10.1023/a:1005357221101. J Inherit Metab Dis. 1998. PMID: 9700589 Review. No abstract available.
Mitochondrial DNA and disease.
Chinnery PF, Turnbull DM. Chinnery PF, et al. Among authors: turnbull dm. Neth J Med. 1998 Jul;53(1):4-6. doi: 10.1016/s0300-2977(98)00054-0. Neth J Med. 1998. PMID: 9718935 No abstract available.
Genetic counseling and prenatal diagnosis for mtDNA disease.
Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Chinnery PF, et al. Among authors: turnbull dm. Am J Hum Genet. 1998 Dec;63(6):1908-11. doi: 10.1086/302157. Am J Hum Genet. 1998. PMID: 9837843 Free PMC article. No abstract available.
600 results