Tolmie JL - Search Results

1

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

Crow YJ, Zuberi SM, McWilliam R, Tolmie JL, Hollman A, Pohl K, Stephenson JB. Crow YJ, et al. Among authors: tolmie jl. J Med Genet. 1998 Feb;35(2):94-8. doi: 10.1136/jmg.35.2.94. J Med Genet. 1998. PMID: 9507386 Free PMC article.

2

The movement disorders of Coffin-Lowry syndrome.

Stephenson JB, Hoffman MC, Russell AJ, Falconer J, Beach RC, Tolmie JL, McWilliam RC, Zuberi SM. Stephenson JB, et al. Among authors: tolmie jl. Brain Dev. 2005 Mar;27(2):108-13. doi: 10.1016/j.braindev.2003.11.010. Brain Dev. 2005. PMID: 15668049

3

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.

4

A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.

Ghaffari SR, Boyd E, Tolmie JL, Crow YJ, Trainer AH, Connor JM. Ghaffari SR, et al. Among authors: tolmie jl. J Med Genet. 1998 Mar;35(3):225-33. doi: 10.1136/jmg.35.3.225. J Med Genet. 1998. PMID: 9541108 Free PMC article.

5

Non-progressive mental retardation and peripheral neuropathy in a mother and her son.

Longman C, Tolmie J, McWilliam R. Longman C, et al. Clin Dysmorphol. 2001 Oct;10(4):273-6. doi: 10.1097/00019605-200110000-00007. Clin Dysmorphol. 2001. PMID: 11666002

6

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, Massey R, McWilliam R, Meager A, Rittey C, Stephenson JB, Tolmie JL, Verrips A, Voit T, van Bokhoven H, Brunner HG, Woods CG. Crow YJ, et al. Among authors: tolmie jl. Am J Hum Genet. 2000 Jul;67(1):213-21. doi: 10.1086/302955. Epub 2000 May 25. Am J Hum Genet. 2000. PMID: 10827106 Free PMC article.

7

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.

8

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB. Tolmie JL, et al. J Med Genet. 1995 Nov;32(11):881-4. doi: 10.1136/jmg.32.11.881. J Med Genet. 1995. PMID: 8592332 Free PMC article. Review.

9

Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry.

Cooke A, Tolmie JL, Glencross FJ, Boyd E, Clarke MM, Day R, Stephenson JB, Connor JM. Cooke A, et al. Among authors: tolmie jl. Am J Med Genet. 1989 Apr;32(4):545-9. doi: 10.1002/ajmg.1320320424. Am J Med Genet. 1989. PMID: 2774001

10

Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait.

Tolmie JL, Wilcox DE, McWilliam R, Assindi A, Stephenson JB. Tolmie JL, et al. J Med Genet. 1988 Nov;25(11):754-7. doi: 10.1136/jmg.25.11.754. J Med Genet. 1988. PMID: 2976839 Free PMC article.

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