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2,862 results

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Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ; NIHR BioResource; Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K. Downes K, et al. Among authors: martin h. Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192. Blood. 2019. PMID: 31064749 Free PMC article.
Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencing.
Rainbow DB, Yang X, Burren O, Pekalski ML, Smyth DJ, Klarqvist MD, Penkett CJ, Brugger K, Martin H, Todd JA, Wallace C, Wicker LS. Rainbow DB, et al. Among authors: martin h. Eur J Immunol. 2015 Nov;45(11):3200-3. doi: 10.1002/eji.201545646. Epub 2015 Oct 1. Eur J Immunol. 2015. PMID: 26420295 Free PMC article. No abstract available.
Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.
Luchetti A, Walsh D, Rodger F, Clark G, Martin T, Irving R, Sanna M, Yao M, Robledo M, Neumann HP, Woodward ER, Latif F, Abbs S, Martin H, Maher ER. Luchetti A, et al. Among authors: martin t, martin h. Int J Endocrinol. 2015;2015:138573. doi: 10.1155/2015/138573. Epub 2015 Mar 25. Int J Endocrinol. 2015. PMID: 25883647 Free PMC article.
Somatic Mutation Screening Using Archival Formalin-Fixed, Paraffin-Embedded Tissues by Fluidigm Multiplex PCR and Illumina Sequencing.
Wang M, Escudero-Ibarz L, Moody S, Zeng N, Clipson A, Huang Y, Xue X, Grigoropoulos NF, Barrans S, Worrillow L, Forshew T, Su J, Firth A, Martin H, Jack A, Brugger K, Du MQ. Wang M, et al. Among authors: martin h. J Mol Diagn. 2015 Sep;17(5):521-32. doi: 10.1016/j.jmoldx.2015.04.008. Epub 2015 Jul 9. J Mol Diagn. 2015. PMID: 26165823 Free PMC article.
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, Almaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee VK, Anderson CA, Schoenmakers N. Nicholas AK, et al. Among authors: martin h. J Clin Endocrinol Metab. 2016 Dec;101(12):4521-4531. doi: 10.1210/jc.2016-1879. Epub 2016 Aug 15. J Clin Endocrinol Metab. 2016. PMID: 27525530 Free PMC article.
Stickler syndrome - lessons from a national cohort.
Snead MP, Richards AJ, McNinch AM, Alexander P, Martin H, Nixon TRW, Bale P, Shenker N, Brown S, Blackwell AM, Poulson AV. Snead MP, et al. Among authors: martin h. Eye (Lond). 2022 Oct;36(10):1966-1972. doi: 10.1038/s41433-021-01776-8. Epub 2021 Oct 5. Eye (Lond). 2022. PMID: 34611315 Free PMC article.
2,862 results