Diagnosis of non-immune hydrops in the newborn.

Por Turnpenny, P D
Publicado em 1994

Ketamine in severe acute asthma.

Por Turnpenny, P D, Nash, S F
Publicado em 1991

Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.

Por Turnpenny, P D, Thwaites, R J, Boulos, F N
Publicado em 1991

Kyphomelic dysplasia: the first 10 cases.

Por Turnpenny, P D, Dakwar, R A, Boulos, F N
Publicado em 1990

Adoption, genetic disease, and DNA.

Por Turnpenny, P D, Simpson, S A, McWhinnie, A M
Publicado em 1993

Cardiofaciocutaneous syndrome with new ectodermal manifestations.

Por Turnpenny, P D, Dean, J C, Auchterlonie, I A, Johnston, A W
Publicado em 1992

Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects.

Por Turnpenny, P D, Dean, J C, Duffty, P, Reid, J A, Carter, P
Publicado em 1992

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

Por Turnpenny, P D, Bulman, M P, Frayling, T M, Abu-Nasra, T K, Garrett, C, Hattersley, A T, Ellard, S
Publicado em 1999

Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype

Por Sparrow, D. B., Chapman, G., Wouters, M. A., Whittock, N. V., Ellard, S., Fatkin, D., Turnpenny, P. D., Kusumi, K., Sillence, D., Dunwoodie, S. L.
Publicado em 2006

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

Por Fratter, C., Raman, P., Alston, C.L., Blakely, E.L., Craig, K., Smith, C., Evans, J., Seller, A., Czermin, B., Hanna, M.G., Poulton, J., Brierley, C., Staunton, T.G., Turnpenny, P.D., Schaefer, A.M., Chinnery, P.F., Horvath, R., Turnbull, D.M., Gorman, G.S., Taylor, R.W.
Publicado em 2011