P. Harper

发表

Molecular Imaging/Therapy: It's Only Useful If It's Useful--and Available A

W. N. Tauxe, R. M. Kniseley, H. Wagner, 2008 .

Hemorrhagic neoplasms: MR mimics of occult vascular malformations.

G. Krol, L. Heier, R. Zimmerman, 1987, AJR. American journal of roentgenology.

MR imaging of calcified intracranial lesions.

D. Norman, W. Kucharczyk, M. Brant-Zawadzki, 1985, Radiology.

THE NATURAL HISTORY OF THE SEVERE FORM OF HUNTER'S SYNDROME: A STUDY BASED ON 52 CASES

I. Young, P. Harper, 1983, Developmental medicine and child neurology.

(12) Ectrodactyly, ectodermal dysplasia and cleft lip and palate (EEC syndrome)

O. P. Gray, P. Harper, J. Swallow, 1973 .

Attitudes of parents of cystic fibrosis children towards neonatal screening and antenatal diagnosis

P. Harper, P. Harper, H. Ryley, 1990, Advances in experimental medicine and biology.

COURSE, PROGNOSIS AND COMPLICATIONS OF CHILDHOOD‐ONSET MYOTONIC DYSTROPHY

P. Harper, T. O'brien, P. S. Harper, 1984, Developmental medicine and child neurology.

Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12

J. Farnham, A. Clarke, P. Harper, 1993, Human Genetics.

Long‐term complications in Hunter's syndrome

I. Young, P. Harper, 1979, Clinical genetics.

Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD)

P. Harper, M. Upadhyaya, J. Maynard, 1995, Muscle & nerve. Supplement.

Myotonia congenita (Thomsen's disease) excluded from the region of the myotonic dystrophy locus on chromosome 19

T. Wienker, M. Koch, B. Zoll, 1989, Human Genetics.

Dentatorubral and pallidoluysian atrophy (DRPLA) Clinical and neuropathological findings in genetically confirmed north american and european pedigrees

M. Porteous, M. Wagster, N. Ranen, 1997, Movement disorders : official journal of the Movement Disorder Society.

Single‐gene neurological disorders in south wales: An epidemiological study

P. Harper, J. MacMillan, P. Harper, 1991, Annals of neurology.

Huntingtin Protein Colocalizes with Lesions of Neurodegenerative Diseases: An Investigation in Huntington's, Alzheimer's, and Pick's Diseases

J. Wood, J. Neal, S. Singhrao, 1998, Experimental Neurology.

De novo facioscapulohumeral muscular dystrophy defined by DNA probe pl 3 E-1 1 ( D 4 F 104 S 1 )

M. Upadhyaya, J. Maynard, P. Harper, 2004 .

Chorionic villus sampling for prenatal diagnosis in wales using DNA probes—5 years' experience

M. Upadhyaya, A. Fryer, O. Quarrell, 1990, Prenatal diagnosis.

Evidence against Linkage of von Recklinghausen Neurofibromatosis and Chromosome 19 Markers

D. Shaw, M. Sarfarazi, A. Meredith, 1986, Annals of the New York Academy of Sciences.

Carrier detection in Becker muscular dystrophy using creatine kinase estimation and DNA analysis

R. Newcombe, H. Kingston, M. Sarfarazi, 1985, Clinical genetics.

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

S. Huson, P. Harper, D. Compston, 1989, Journal of medical genetics.

Identification of new DNA markers close to the myotonic dystrophy locus.

D. Shaw, P. Harper, M. Siciliano, 1991, Journal of medical genetics.

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling.

S. Huson, P. Harper, D. Compston, 1989, Journal of medical genetics.

Unstable DNA sequence in myotonic dystrophy

W. Reardon, D. Shaw, P. Harper, 1992, The Lancet.

Molecular basis of neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene

D. Shaw, P. Harper, M. Upadhyaya, 1994, Human mutation.

Molecular analysis and clinical correlations of the Huntington's disease mutation

R. Snell, P. Harper, J. Cheadle, 1993, The Lancet.

Clinical genetics in neurological disease.

P. Harper, C. Macmillan, J. MacMillan, 1994, Journal of neurology, neurosurgery, and psychiatry.

Becker muscular dystrophy: correlation of deletion type with clinical severity.

P. Harper, H. Kingston, N. Thomas, 1990, Journal of medical genetics.

Genetic counselling in facioscapulohumeral muscular dystrophy.

P. Harper, P. Harper, P. Lunt, 1991, Journal of medical genetics.

Screening for Duchenne muscular dystrophy.

M. Rogers, P. Harper, J. Sibert, 1989, Archives of Disease in Childhood.

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

D. Compston, P. Harper, P. Clark, 1989, Journal of medical genetics.

The problem of isolated cases of Huntington's disease in South Wales 1974–1984

P. Harper, O. Quarrell, P. Harper, 1986, Clinical genetics.

Becker muscular dystrophy: correlation of deletion type with clinical severity.

H. Kingston, N. Thomas, P. Harper, 1990, Journal of medical genetics.

Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.

A. Meredith, P. Harper, A. Norman, 1989, Journal of Medical Genetics.

A study of DNA methylation in myotonic dystrophy.

D. Shaw, P. Harper, J. Brook, 1993, Journal of medical genetics.