Thompson EM - Search Results

1

Savarirayan R, Thompson EM. Savarirayan R, et al. Among authors: thompson em. Clin Dysmorphol. 1997 Apr;6(2):181-2. Clin Dysmorphol. 1997. PMID: 9134301 No abstract available.

2

Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?

Janssens K, Thompson E, Vanhoenacker F, Savarirayan R, Morris L, Dobbie A, Van Hul W. Janssens K, et al. Clin Dysmorphol. 2003 Oct;12(4):245-50. doi: 10.1097/00019605-200310000-00007. Clin Dysmorphol. 2003. PMID: 14564212

3

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF. Roscioli T, et al. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):259-70. doi: 10.1002/ajmg.c.31378. Epub 2013 Oct 11. Am J Med Genet C Semin Med Genet. 2013. PMID: 24127277

4

Baller-Gerold syndrome associated with congenital portal venous malformation.

Savarirayan R, Tomlinson P, Thompson E. Savarirayan R, et al. J Med Genet. 1998 Sep;35(9):767-9. doi: 10.1136/jmg.35.9.767. J Med Genet. 1998. PMID: 9733037 Free PMC article. Review.

5

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, Delatycki MB, Fahey M, Baxendale A, White S, Haan E, Gibson K, Halliday JL, Bankier A. White SM, et al. Among authors: thompson em. Am J Med Genet A. 2004 Jun 1;127A(2):118-27. doi: 10.1002/ajmg.a.20674. Am J Med Genet A. 2004. PMID: 15108197

6

Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome.

Savarirayan R, Thompson EM, Abbott KJ, Moore MH. Savarirayan R, et al. Among authors: thompson em. Am J Med Genet. 1999 Sep 3;86(1):15-9. doi: 10.1002/(sici)1096-8628(19990903)86:1<15::aid-ajmg4>3.0.co;2-i. Am J Med Genet. 1999. PMID: 10440823

7

Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R. Andreucci E, et al. Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37. Orphanet J Rare Dis. 2011. PMID: 21658220 Free PMC article.

8

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).

Savarirayan R, Thompson E, Gécz J. Savarirayan R, et al. Eur J Hum Genet. 2003 Sep;11(9):639-42. doi: 10.1038/sj.ejhg.5201025. Eur J Hum Genet. 2003. PMID: 12939648

9

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.

Dimasi DP, Chen JY, Hewitt AW, Klebe S, Davey R, Stirling J, Thompson E, Forbes R, Tan TY, Savarirayan R, Mackey DA, Healey PR, Mitchell P, Burdon KP, Craig JE. Dimasi DP, et al. Hum Genet. 2010 Jan;127(1):33-44. doi: 10.1007/s00439-009-0729-3. Epub 2009 Aug 28. Hum Genet. 2010. PMID: 19714363

10

Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly.

Bateman JF, Freddi S, McNeil R, Thompson E, Hermanns P, Savarirayan R, Lamandé SR. Bateman JF, et al. Hum Mutat. 2004 Apr;23(4):396. doi: 10.1002/humu.9222. Hum Mutat. 2004. PMID: 15024737

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