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Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome

The Lancet (British edition), 1995-12, Vol.346 (8988), p.1458-1463

1995

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Wolfram (DIDMOAD) syndrome

Journal of medical genetics, 1997-10, Vol.34 (10), p.838-841

1997

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Optic atrophy in Wolfram (DIDMOAD) syndrome

Eye (London), 1997-01, Vol.11 (6), p.882-888

1997

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A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24

American journal of human genetics, 1998-05, Vol.62 (5), p.1070-1076

1998

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Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness

American journal of human genetics, 1998-05, Vol.62 (5), p.1123-1128

1998

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Unusual features in the inheritance of ataxia telangiectasia

Human genetics, 1990-05, Vol.84 (6), p.555-562

1990

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Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence

Journal of medical genetics, 1985-04, Vol.22 (2), p.85-91

1985

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A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four european families

Annals of neurology, 1995-04, Vol.37 (4), p.452-459

1995

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Is there an X-linked form of congenital cataracts?

Clinical genetics, 1982-05, Vol.21 (5), p.351-353

1982

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Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion

Journal of medical genetics, 1971-12, Vol.8 (4), p.407-416

1971

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Population incidence and segregation ratios in the Martin-Bell syndrome

American journal of medical genetics, 1986-01, Vol.23 (1-2), p.573-580

1986

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A cytogenetic survey of a mentally retarded school-age population with special reference to fragile sites

Journal of mental deficiency research, 1987-03, Vol.31 ( Pt 1), p.61

1987

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Concordance in a sample of index cases and their monozygous twins and in the population of monozygous twin pairs

The Lancet (British edition), 1972-12, Vol.2 (7792), p.1424-1424

1972

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Mucolipidosis, probably a new variant with joint deformity and peripheral nerve dysfunction

Birth defects original article series, 1974, Vol.10 (12), p.484

1974

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A clinical and molecular genetic study of dentatorubropallidolyusian atrophy in four european families

Annals of neurology, 1995, Vol.37 (4), p.452-459

1995

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A cytogenetic survey of a mentally retarded school-age population with special reference to fragile sites

Journal of intellectual disability research, 1987-03, Vol.31 (1), p.61-71

1987

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RECURRANCE OF CEREBRAL PALSY - an account of a study in the West Midlands

Apex (Kidderminster), 1978-03, Vol.5 (4), p.25-26

1978

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Clinical Genetics

Archives of Disease in Childhood, 1980, Vol.55 (3), p.247-247

Bundey, Sarah E

1980

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The inheritance of otosclerosis

Journal of laryngology and otology, 1970-09, Vol.84 (9), p.921-932

1970

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Neurodegeneration and Diabetes: Nationwide Study of Wolfram (DIDMOAD) Syndrome

Clinical Science, 1996-07, Vol.91 (s35), p.19-19P

1996

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Single Amino Acid Mutation Contributes to Adaptive Beach Mouse Color Pattern

Science (American Association for the Advancement of Science), 2006-07, Vol.313 (5783), p.101-104

2006

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Integrated Quantum Mechanical and Machine Learning Methods Enable Scalable and General pKa Prediction for Pharmacokinetic Modeling

The FASEB journal, 2022-05, Vol.36 (S1), p.n/a

2022

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12-Lipoxygenase in Opioid-Induced Delayed Cardioprotection: Gene Array, Mass Spectrometric, and Pharmacological Analyses

Circulation research, 2003-04, Vol.92 (6), p.676-682

2003

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Coordinate Down-regulation of Adenylyl Cyclase Isoforms and the Stimulatory G Protein (Gs) in Intestinal Epithelial Cell Differentiation

The Journal of biological chemistry, 2010-04, Vol.285 (17), p.12504-12511

2010

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Genetics and Neurology

2014

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Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome

Wolfram (DIDMOAD) syndrome

Optic atrophy in Wolfram (DIDMOAD) syndrome

A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24

Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness

Unusual features in the inheritance of ataxia telangiectasia

Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence

A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four european families

Is there an X-linked form of congenital cataracts?

Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion

Population incidence and segregation ratios in the Martin-Bell syndrome

A cytogenetic survey of a mentally retarded school-age population with special reference to fragile sites

Concordance in a sample of index cases and their monozygous twins and in the population of monozygous twin pairs

Mucolipidosis, probably a new variant with joint deformity and peripheral nerve dysfunction

A clinical and molecular genetic study of dentatorubropallidolyusian atrophy in four european families

A cytogenetic survey of a mentally retarded school-age population with special reference to fragile sites

RECURRANCE OF CEREBRAL PALSY - an account of a study in the West Midlands

Clinical Genetics

The inheritance of otosclerosis

Neurodegeneration and Diabetes: Nationwide Study of Wolfram (DIDMOAD) Syndrome

Single Amino Acid Mutation Contributes to Adaptive Beach Mouse Color Pattern

Integrated Quantum Mechanical and Machine Learning Methods Enable Scalable and General pKa Prediction for Pharmacokinetic Modeling

12-Lipoxygenase in Opioid-Induced Delayed Cardioprotection: Gene Array, Mass Spectrometric, and Pharmacological Analyses

Coordinate Down-regulation of Adenylyl Cyclase Isoforms and the Stimulatory G Protein (Gs) in Intestinal Epithelial Cell Differentiation

Genetics and Neurology

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