Tomlin PI - Search Results

1

Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy.

de Goede CG, Kelsey A, Kingston H, Tomlin PI, Hughes MI. de Goede CG, et al. Among authors: tomlin pi. Dev Med Child Neurol. 2005 Dec;47(12):835-7. doi: 10.1017/S0012162205001763. Dev Med Child Neurol. 2005. PMID: 16288675 Free article.

2

Distinctive neurological phenotype associated with partial trisomy of chromosome 16.

McCullagh BG, Kerr B, Trueman S, Tomlin PI, Thomas M, Wynn R, de Goede CG. McCullagh BG, et al. Among authors: tomlin pi. Eur J Paediatr Neurol. 2013 Jan;17(1):105-7. doi: 10.1016/j.ejpn.2012.06.009. Epub 2012 Aug 24. Eur J Paediatr Neurol. 2013. PMID: 22921637

3

Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.

Kingston HM, Ledbetter DH, Tomlin PI, Gaunt KL. Kingston HM, et al. Among authors: tomlin pi. J Med Genet. 1996 Jan;33(1):69-72. doi: 10.1136/jmg.33.1.69. J Med Genet. 1996. PMID: 8825053 Free PMC article.

4

Social cognition in children with epilepsy in mainstream education.

Lew AR, Lewis C, Lunn J, Tomlin P, Basu H, Roach J, Rakshi K, Martland T. Lew AR, et al. Dev Med Child Neurol. 2015 Jan;57(1):53-9. doi: 10.1111/dmcn.12613. Epub 2014 Oct 21. Dev Med Child Neurol. 2015. PMID: 25330820 Free PMC article.

5

Kohlschutter syndrome in siblings.

Donnai D, Tomlin PI, Winter RM. Donnai D, et al. Among authors: tomlin pi. Clin Dysmorphol. 2005 Jul;14(3):123-126. Clin Dysmorphol. 2005. PMID: 15930900

6

Sibs with developmental delay, hirsutism and nail hypoplasia: a new syndrome.

Stewart H, Kerr B, Tomlin P, Stacey D, Super M. Stewart H, et al. Clin Dysmorphol. 2000 Oct;9(4):241-6. doi: 10.1097/00019605-200009040-00002. Clin Dysmorphol. 2000. PMID: 11045578

7

Psychosocial problems and seizure-related factors in children with epilepsy.

Lew AR, Lewis C, Owen L, West S, Tomlin P, Roach J, Vassallo G. Lew AR, et al. Dev Med Child Neurol. 2006 Aug;48(8):704. doi: 10.1017/S0012162206251491. Dev Med Child Neurol. 2006. PMID: 16836792 Free article. No abstract available.

8

A familial dysmorphic condition with hypotonia, seizures and precocious puberty.

Smith A, Leask K, Tomlin P, Donnai D. Smith A, et al. Clin Dysmorphol. 2008 Jul;17(3):161-164. doi: 10.1097/MCD.0b013e328302f0c4. Clin Dysmorphol. 2008. PMID: 18541960

9

Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept.

Arkwright PD, McDermott MF, Houten SM, Frenkel J, Waterham HR, Aganna E, Hammond LJ, Mirakian RM, Tomlin PI, Vijaydurai PI, Cant AJ. Arkwright PD, et al. Among authors: tomlin pi. Clin Exp Immunol. 2002 Dec;130(3):484-8. doi: 10.1046/j.1365-2249.2002.02002.x. Clin Exp Immunol. 2002. PMID: 12452839 Free PMC article.

10

A study on carbamazepine levels, including estimation of 10-11 epoxy-carbamazepine and levels in free plasma and saliva.

Tomlin PI, McKinlay I, Smith I. Tomlin PI, et al. Dev Med Child Neurol. 1986 Dec;28(6):713-8. doi: 10.1111/j.1469-8749.1986.tb03922.x. Dev Med Child Neurol. 1986. PMID: 3817310

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