Medical genetics: advances in brief: Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

Por Ravine, D
Publicado em 1994

Molecular Medicine. An Introductory Text for Students

Por Ravine, D
Publicado em 1995

The Inherited Metabolic Diseases

Por Ravine, D
Publicado em 1995

Human Cytogenetics Database

Por Creasy, M, Ravine, D
Publicado em 1994

Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2

Por Lynch, S, Whatley, S, Ramesh, V, Sinha, S, Ravine, D
Publicado em 2003

Genetic inheritance of susceptibility to tinea imbricata.

Por Ravine, D, Turner, K J, Alpers, M P
Publicado em 1980

Eight years' experience of direct molecular testing for myotonic dystrophy in Wales

Por Fokstuen, S., Myring, J., Meredith, L., Ravine, D., Harper, P.
Publicado em 2001

Growth in Sotos syndrome

Por Agwu, J, Shaw, N, Kirk, J, Chapman, S, Ravine, D, Cole, T
Publicado em 1999

Task specific focal dystonia: a presentation of spinocerebellar ataxia type 6

Por Muzaimi, M, Wiles, C, Robertson, N, Ravine, D, Compston, D
Publicado em 2003

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.

Por Upadhyaya, M, Maynard, J, Rogers, M T, Lunt, P W, Jardine, P, Ravine, D, Harper, P S
Publicado em 1997

Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder

Por Baker, K, Rees, M, Thompson, P, Howell, R, Cole, T, Hughes, H, Upadhyaya, M, Ravine, D
Publicado em 2001

Population based study of late onset cerebellar ataxia in south east Wales

Por Muzaimi, M, Thomas, J, Palmer-Smith, S, Rosser, L, Harper, P, Wiles, C, Ravine, D, Robertson, N
Publicado em 2004

Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients

Por McCune, C A, Ravine, D, Carter, K, Jackson, H A, Hutton, D, Hedderich, J, Krawczak, M, Worwood, M
Publicado em 2006

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Por Saxena, A, de Lagarde, D, Leonard, H, Williamson, S L, Vasudevan, V, Christodoulou, J, Thompson, E, MacLeod, P, Ravine, D
Publicado em 2006

X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.

Por Lagerström-Fermér, M, Sundvall, M, Johnsen, E, Warne, G L, Forrest, S M, Zajac, J D, Rickards, A, Ravine, D, Landegren, U, Pettersson, U
Publicado em 1997

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.

Por Sampson, J R, Maheshwar, M M, Aspinwall, R, Thompson, P, Cheadle, J P, Ravine, D, Roy, S, Haan, E, Bernstein, J, Harris, P C
Publicado em 1997

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Por Leonard, H, Colvin, L, Christodoulou, J, Schiavello, T, Williamson, S, Davis, M, Ravine, D, Fyfe, S, de Klerk, N, Matsuishi, T, Kondo, I, Clarke, A, Hackwell, S, Yamashita, Y
Publicado em 2003

Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach

Por An, J Y, Cristino, A S, Zhao, Q, Edson, J, Williams, S M, Ravine, D, Wray, J, Marshall, V M, Hunt, A, Whitehouse, A J O, Claudianos, C
Publicado em 2014

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

Por Bebbington, A, Percy, A, Christodoulou, J, Ravine, D, Ho, G, Jacoby, P, Anderson, A, Pineda, M, Ben Zeev, B, Bahi-Buisson, N, Smeets, E, Leonard, H
Publicado em 2009

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

Por Gill, H, Cheadle, J, Maynard, J, Fleming, N, Whatley, S, Cranston, T, Thompson, E, Leonard, H, Davis, M, Christodoulou, J, Skjeldal, O, Hanefeld, F, Kerr, A, Tandy, A, Ravine, D, Clarke, A
Publicado em 2003