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Page 1
Advances in genetics.
Lees MM, Winter RM. Lees MM, et al. Among authors: winter rm. Arch Dis Child. 1996 Oct;75(4):346-50. doi: 10.1136/adc.75.4.346. Arch Dis Child. 1996. PMID: 8984927 Free PMC article. Review. No abstract available.
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.
Optic disc anomalies and frontonasal dysplasia.
Hodgkins P, Lees M, Lawson J, Reardon W, Leitch J, Thorogood P, Winter RM, Taylor DS. Hodgkins P, et al. Among authors: winter rm. Br J Ophthalmol. 1998 Mar;82(3):290-3. doi: 10.1136/bjo.82.3.290. Br J Ophthalmol. 1998. PMID: 9602627 Free PMC article.
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.
Sponastrime dysplasia: presentation in infancy.
Offiah AC, Lees M, Winter RM, Hall CM. Offiah AC, et al. Among authors: winter rm. J Med Genet. 2001 Dec;38(12):889-93. doi: 10.1136/jmg.38.12.889. J Med Genet. 2001. PMID: 11768397 Free PMC article. No abstract available.
253 results