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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

Results by year

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Page 1
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
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.
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
Cataplexy in the Prader-Willi syndrome.
Tobias ES, Tolmie JL, Stephenson JB. Tobias ES, et al. Among authors: tolmie jl. Arch Dis Child. 2002 Aug;87(2):170. doi: 10.1136/adc.87.2.170-a. Arch Dis Child. 2002. PMID: 12138077 Free PMC article. No abstract available.
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.
Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Piherová L, Kuchař L, Baxová A, Chen R, Barsottini OG, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P; Care4Rare Canada; Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK. Kmoch S, et al. Among authors: tolmie jl. Nat Commun. 2015 Jan 9;6:5614. doi: 10.1038/ncomms6614. Nat Commun. 2015. PMID: 25574898 Free PMC article.
86 results