N. Elanko

发表

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

E. Zackai, S. Twigg, A. Wilkie, 2002, American journal of human genetics.

Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy

J. Mogensen, T. Kubo, W. McKenna, 2003, Journal of medical genetics.

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

J. Clayton-Smith, I. Temple, A. Wilkie, 2001, Human mutation.

Autosomal recessive Robinow syndrome is caused by homozygous mutations in ROR2.

M. Patton, B. Tüysüz, V. Murday, 2000 .

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

J. Hurst, S. Twigg, A. Wilkie, 2000, Nature Genetics.

Mutation analysis of PTPN11 in Noonan syndrome by WAVE.

S. Jeffery, N. Elanko, 2006, Methods in molecular medicine.

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

M. Patton, B. Tüysüz, A. Wilkie, 2000, Nature Genetics.

Cervical HPV infection and neoplasia in a large population-based prospective study: the Manchester cohort

J. Peto, M. Desai, C. Gilham, 2004, British Journal of Cancer.