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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Lake NJ, et al. Among authors: pulman j. Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. Am J Hum Genet. 2017. PMID: 28777931 Free PMC article.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Lake NJ, et al. Among authors: pulman j. Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.015. Am J Hum Genet. 2018. PMID: 29625026 Free PMC article. No abstract available.
Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia.
Colin E, Courtois G, Brouzes C, Pulman J, Rabant M, Rötig A, Taffin H, Lion-Lambert M, Fabrega S, Da Costa L, De Montalembert M, Salomon R, Hermine O, Couronné L. Colin E, et al. Among authors: pulman j. Haematologica. 2021 Dec 1;106(12):3202-3205. doi: 10.3324/haematol.2021.279138. Haematologica. 2021. PMID: 34407605 Free PMC article. No abstract available.
Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.
Bromley R, Adab N, Bluett-Duncan M, Clayton-Smith J, Christensen J, Edwards K, Greenhalgh J, Hill RA, Jackson CF, Khanom S, McGinty RN, Tudur Smith C, Pulman J, Marson AG. Bromley R, et al. Among authors: pulman j. Cochrane Database Syst Rev. 2023 Aug 29;8(8):CD010224. doi: 10.1002/14651858.CD010224.pub3. Cochrane Database Syst Rev. 2023. PMID: 37647086 Free PMC article. Review.
A contiguous de novo genome assembly of sugar beet EL10 (Beta vulgaris L.).
McGrath JM, Funk A, Galewski P, Ou S, Townsend B, Davenport K, Daligault H, Johnson S, Lee J, Hastie A, Darracq A, Willems G, Barnes S, Liachko I, Sullivan S, Koren S, Phillippy A, Wang J, Liu T, Pulman J, Childs K, Shu S, Yocum A, Fermin D, Mutasa-Göttgens E, Stevanato P, Taguchi K, Naegele R, Dorn KM. McGrath JM, et al. Among authors: pulman j. DNA Res. 2023 Feb 1;30(1):dsac033. doi: 10.1093/dnares/dsac033. DNA Res. 2023. PMID: 36208288 Free PMC article.
Increasing prevalence of a fluoroquinolone resistance mutation amongst Campylobacter jejuni isolates from four human infectious intestinal disease studies in the United Kingdom.
Haldenby S, Bronowski C, Nelson C, Kenny J, Martinez-Rodriguez C, Chaudhuri R, Williams NJ, Forbes K, Strachan NJ, Pulman J, Winstanley IN, Corless CE, Humphrey TJ, Bolton FJ, O'Brien SJ, Hall N, Hertz-Fowler C, Winstanley C. Haldenby S, et al. Among authors: pulman j. PLoS One. 2020 Jan 30;15(1):e0227535. doi: 10.1371/journal.pone.0227535. eCollection 2020. PLoS One. 2020. PMID: 31999701 Free PMC article.
38 results