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Late Medieval Liturgies Enacted: The Experience of Worship in Cathedral and Parish Church

1st edition., 2016

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Aberrant Interactions of Transcriptional Repressor Proteins with the Huntington's Disease Gene Product, Huntingtin

Human molecular genetics, 1999-09, Vol.8 (9), p.1647-1655

1999

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Molecular genetics of neurofibromatosis type 1 (NF1)

Journal of medical genetics, 1996-01, Vol.33 (1), p.2-17

1996

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Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France

Clinical genetics, 2018-07, Vol.94 (1), p.115-124

Harper, P.S.

2018

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Cardiac disease in myotonic dystrophy

Cardiovascular research, 1997, Vol.33 (1), p.13-22

1997

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

Journal of neurology, neurosurgery and psychiatry, 2004-08, Vol.75 (8), p.1129-1134

2004

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Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium

Journal of medical genetics, 2000-08, Vol.37 (8), p.567-571

2000

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The Human Genetics Historical Library: an international resource for geneticists and historians

Clinical genetics, 2010-03, Vol.77 (3), p.214-220

2010

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A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?

Journal of neurology, neurosurgery and psychiatry, 2006-02, Vol.77 (2), p.269-271

2006

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Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

Human molecular genetics, 1995-05, Vol.4 (5), p.951-958

1995

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What do we mean by genetic testing?

Journal of medical genetics, 1997-09, Vol.34 (9), p.749-752

Harper, P S

1997

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

Journal of medical genetics, 1989-11, Vol.26 (11), p.704-711

1989

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The epidemiology of Huntington's disease

Human genetics, 1992-06, Vol.89 (4), p.365-376

HARPER, P. S

1992

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Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length

Journal of medical genetics, 1999-02, Vol.36 (2), p.108-111

1999

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Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

Nature (London), 1992-02, Vol.355 (6360), p.545-546

1992

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Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales

Brain (London, England : 1878), 1988-12, Vol.111 (6), p.1355-1381

1988

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Daytime somnolence in myotonic dystrophy

Journal of neurology, 1999-04, Vol.246 (4), p.275-282

1999

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The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects

Archives of disease in childhood, 1993-02, Vol.68 (2), p.177-181

1993

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

Journal of medical genetics, 1997-06, Vol.34 (6), p.476-479

1997

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Familial motor neurone disease with dementia: phenotypic variation and cerebellar pathology

Journal of neurology, neurosurgery and psychiatry, 2003-11, Vol.74 (11), p.1516-1520

2003

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

Experimental neurology, 1998-04, Vol.150 (2), p.213-222

1998

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Unstable DNA sequence in myotonic dystrophy

The Lancet (British edition), 1992-05, Vol.339 (8802), p.1125-1128

1992

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Genetic counselling in facioscapulohumeral muscular dystrophy

Journal of medical genetics, 1991-10, Vol.28 (10), p.655-664

1991

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Anticipation in myotonic dystrophy : new light on an old problem

American journal of human genetics, 1992-07, Vol.51 (1), p.10-16

1992

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Huntingtin Interacts with Cystathionine β-Synthase

Human molecular genetics, 1998-03, Vol.7 (3), p.371-378

1998

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Late Medieval Liturgies Enacted: The Experience of Worship in Cathedral and Parish Church

Aberrant Interactions of Transcriptional Repressor Proteins with the Huntington's Disease Gene Product, Huntingtin

Molecular genetics of neurofibromatosis type 1 (NF1)

Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France

Cardiac disease in myotonic dystrophy

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

Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium

The Human Genetics Historical Library: an international resource for geneticists and historians

A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

What do we mean by genetic testing?

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

The epidemiology of Huntington's disease

Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales

Daytime somnolence in myotonic dystrophy

The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects

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

Familial motor neurone disease with dementia: phenotypic variation and cerebellar pathology

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

Unstable DNA sequence in myotonic dystrophy

Genetic counselling in facioscapulohumeral muscular dystrophy

Anticipation in myotonic dystrophy : new light on an old problem

Huntingtin Interacts with Cystathionine β-Synthase

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