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Page 1
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E, Topf A, Barresi R, Hudson J, Powell H, Tellez J, Hicks D, Porter A, Bertoli M, Evangelista T, Marini-Betollo C, Magnússon Ó, Lek M, MacArthur D, Bushby K, Lochmüller H, Straub V. Harris E, et al. Among authors: powell h. Orphanet J Rare Dis. 2017 Sep 6;12(1):151. doi: 10.1186/s13023-017-0699-9. Orphanet J Rare Dis. 2017. PMID: 28877744 Free PMC article.
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
Venables JP, Strain L, Routledge D, Bourn D, Powell HM, Warwicker P, Diaz-Torres ML, Sampson A, Mead P, Webb M, Pirson Y, Jackson MS, Hughes A, Wood KM, Goodship JA, Goodship TH. Venables JP, et al. Among authors: powell hm. PLoS Med. 2006 Oct;3(10):e431. doi: 10.1371/journal.pmed.0030431. PLoS Med. 2006. PMID: 17076561 Free PMC article.
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.
Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, Livingston JH, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Stewart JD, et al. Among authors: powell h. J Med Genet. 2009 Mar;46(3):209-14. doi: 10.1136/jmg.2008.058180. J Med Genet. 2009. PMID: 19251978
Chylothorax: an update.
Paes ML, Powell H. Paes ML, et al. Among authors: powell h. Br J Hosp Med. 1994 May 4-17;51(9):482-90. Br J Hosp Med. 1994. PMID: 7921507 Review.
Serum levels of total bile acids are associated with an increased risk of HCC in patients with cirrhosis.
El-Serag HB, Thrift AP, Duong H, Ning J, Khaderi S, Singal AG, Asrani SK, Marrero JA, Powell H, Rizwan K, Najjar O, Amos CI, Luster M, Al-Sarraj A, Salem E, Scheurer ME, Chhatwal J, Kaochar S, Kanwal F. El-Serag HB, et al. Among authors: powell h. Hepatol Commun. 2024 Oct 10;8(11):e0545. doi: 10.1097/HC9.0000000000000545. eCollection 2024 Nov 1. Hepatol Commun. 2024. PMID: 39652379 Free PMC article.
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
788 results