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Page 1
Raised limb bands developing in infancy.
Meggitt SJ, Harper J, Lacour M, Taylor AE. Meggitt SJ, et al. Among authors: harper j. Br J Dermatol. 2002 Aug;147(2):359-63. doi: 10.1046/j.1365-2133.2002.04775.x. Br J Dermatol. 2002. PMID: 12174113 Review.
Nance-Sweeney chondrodysplasia--a further case?
Rosser EM, Hall CM, Harper J, Lacour M, Baraitser M. Rosser EM, et al. Among authors: harper j. Clin Dysmorphol. 1996 Jul;5(3):207-12. Clin Dysmorphol. 1996. PMID: 8818448
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
Using structured problem solving to promote fluid consumption in the prevention of urinary stones with hydration (PUSH) trial.
Reese PP, Shah S, Funsten E, Amaral S, Audrain-McGovern J, Koepsell K, Wessells H, Harper JD, McCune R, Scales CD Jr, Kirkali Z, Maalouf NM, Lai HH, Desai AC, Al-Khalidi HR, Tasian GE. Reese PP, et al. Among authors: harper jd. BMC Nephrol. 2024 May 28;25(1):183. doi: 10.1186/s12882-024-03605-y. BMC Nephrol. 2024. PMID: 38807063 Free PMC article. Clinical Trial.
2,648 results