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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
1987 9
1988 5
1989 6
1990 3
1991 3
1992 1
1993 1
1994 3
1995 4
1996 7
1997 8
1998 5
1999 2
2000 1
2001 4
2002 2
2003 1
2004 1
2005 3
2006 1
2007 2
2008 3
2009 2
2010 2
2012 1
2014 2
2015 5
2024 0

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Search Results

86 results

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Page 1
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR. Tarpey PS, et al. Among authors: tolmie jl. Nat Genet. 2009 May;41(5):535-43. doi: 10.1038/ng.367. Epub 2009 Apr 19. Nat Genet. 2009. PMID: 19377476 Free PMC article.
Recurrence risks in mental retardation.
Crow YJ, Tolmie JL. Crow YJ, et al. Among authors: tolmie jl. J Med Genet. 1998 Mar;35(3):177-82. doi: 10.1136/jmg.35.3.177. J Med Genet. 1998. PMID: 9541099 Free PMC article. Review.
A new case of Myhre syndrome.
Whiteford ML, Doig WB, Raine PA, Hollman AS, Tolmie JL. Whiteford ML, et al. Among authors: tolmie jl. Clin Dysmorphol. 2001 Apr;10(2):135-40. doi: 10.1097/00019605-200104000-00011. Clin Dysmorphol. 2001. PMID: 11310994 Review.
Diagnosis in Prader-Willi syndrome.
Chu CE, Cooke A, Stephenson JB, Tolmie JL, Clarke B, Parry-Jones WL, Connor JM, Donaldson MD. Chu CE, et al. Among authors: tolmie jl. Arch Dis Child. 1994 Nov;71(5):441-2. doi: 10.1136/adc.71.5.441. Arch Dis Child. 1994. PMID: 7826116 Free PMC article.
Syndromes associated with trichothiodystrophy.
Tolmie JL, de Berker D, Dawber R, Galloway C, Gregory DW, Lehmann AR, McClure J, Pollitt RJ, Stephenson JB. Tolmie JL, et al. Clin Dysmorphol. 1994 Jan;3(1):1-14. Clin Dysmorphol. 1994. PMID: 8205320
Prenatal diagnosis of microcephaly.
Tolmie JL. Tolmie JL. Prenat Diagn. 1991 May;11(5):347. doi: 10.1002/pd.1970110513. Prenat Diagn. 1991. PMID: 1896423 No abstract available.
Genetic aspects of early childhood scoliosis.
Connor JM, Conner AN, Connor RA, Tolmie JL, Yeung B, Goudie D. Connor JM, et al. Among authors: tolmie jl. Am J Med Genet. 1987 Jun;27(2):419-24. doi: 10.1002/ajmg.1320270220. Am J Med Genet. 1987. PMID: 3300334
Mosaic structural variation in children with developmental disorders.
King DA, Jones WD, Crow YJ, Dominiczak AF, Foster NA, Gaunt TR, Harris J, Hellens SW, Homfray T, Innes J, Jones EA, Joss S, Kulkarni A, Mansour S, Morris AD, Parker MJ, Porteous DJ, Shihab HA, Smith BH, Tatton-Brown K, Tolmie JL, Trzaskowski M, Vasudevan PC, Wakeling E, Wright M, Plomin R, Timpson NJ, Hurles ME; Deciphering Developmental Disorders Study. King DA, et al. Among authors: tolmie jl. Hum Mol Genet. 2015 May 15;24(10):2733-45. doi: 10.1093/hmg/ddv033. Epub 2015 Jan 29. Hum Mol Genet. 2015. PMID: 25634561 Free PMC article.
86 results