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Brain lesions detected by magnetic resonance imaging in mild and severe head injuries. Lancet (1986) 1.44

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Fibrinogen genotype and risk of peripheral atherosclerosis. Lancet (1992) 1.44

The cervical spine in fibrodysplasia ossificans progressiva. Br J Radiol (1982) 1.42

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum Mol Genet (1998) 1.41

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A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification. Eye (Lond) (1988) 1.32

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Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues. J Med Genet (1994) 1.26

Phenylketonuria: a reassessment of mass infant screening by napkin test. Br Med J (1967) 1.19

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Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland. Am J Hum Genet (1989) 1.17

Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry. Hum Genet (1986) 1.16

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Changes in cranial CSF volume during hypercapnia and hypocapnia. J Neurol Neurosurg Psychiatry (1989) 1.15

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"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome. J Med Genet (1998) 1.12

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins. J Med Genet (2005) 1.12

Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis. Hum Mol Genet (1994) 1.12

Genetic aspects of fibrodysplasia ossificans progressiva. J Med Genet (1982) 1.12

Mucinous appendiceal tumors: clinical review. J Med Soc N J (1985) 1.11

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The angiotensin I converting enzyme gene and predisposition to high blood pressure. Hypertension (1993) 1.05

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The psychosocial sequelae of a second-trimester termination of pregnancy for fetal abnormality. Prenat Diagn (1992) 1.05

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Impact of a regional screening programme using maternal serum alpha fetoprotein (AFP) and human chorionic gonadotrophin (hCG) on the birth incidence of Down's syndrome in the west of Scotland. J Med Screen (1994) 1.04

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The hands, and the mind, pre- and post-regression, in Rett syndrome. Brain Dev (1987) 1.02

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First-trimester combined ultrasound and biochemical screening for Down syndrome in routine clinical practice. Prenat Diagn (2004) 1.00

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet (1998) 1.00

Hyperammonaemic encephalopathy after a subureteric injection for vesicoureteric reflux. Arch Dis Child (1998) 0.99

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. Hum Mol Genet (1994) 0.98

Treatment of classical phenylketonuria. Arch Dis Child (1968) 0.98

Rett's syndrome in the west of Scotland. Br Med J (Clin Res Ed) (1985) 0.98

Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1). J Med Genet (1993) 0.97

Spastic hemiparesis and presumed prenatal embolisation. Arch Dis Child (1988) 0.97

Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. Hum Genet (2001) 0.97

Dominant inheritance of Scheuermann's juvenile kyphosis. J Med Genet (1989) 0.96

Cardiopulmonary function in fibrodysplasia ossificans progressiva. Thorax (1981) 0.96

Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation. J Inherit Metab Dis (1988) 0.96

Muscle ultrasound in the assessment of suspected neuromuscular disease in childhood. Neuromuscul Disord (1999) 0.96

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A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene. J Inherit Metab Dis (1998) 0.96

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The radiological spectrum of fibrodysplasia ossificans progressiva. Clin Radiol (1982) 0.95

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Diagnosis in Prader-Willi syndrome. Arch Dis Child (1994) 0.94

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Pertussis immunisation convulsions are not evidence of encephalopathy. Lancet (1979) 0.93

First trimester prenatal exclusion of tuberous sclerosis. Lancet (1987) 0.93

Evidence for a familial pregnancy-induced hypertension locus in the eNOS-gene region. Am J Hum Genet (1997) 0.93