Published in J Med Genet on December 01, 1966
An apparatus for the simultaneous production of many two-dimensional paper chromatograms. Science (1950) 4.26
CAMPTODACTYLY. Am J Roentgenol Radium Ther Nucl Med (1964) 1.19
FAMILIAL STREBLODACTLY WITH AMINO-ACIDURIA. Br Med J (1963) 1.11
Amino-acid and protein metabolism in pernicious anaemia. Br J Haematol (1958) 1.07
Congenital symmetrical finger contractures: report of a case. J Am Med Assoc (1954) 0.97
THE INHERITANCE OF THE RADIALLY CURVED LITTLE FINGER. Acta Genet Stat Med (1965) 0.92
Campylodactyly: flexor contracture of the fingers in young girls. Br J Plast Surg (1956) 0.86
Possible prevention of neural-tube defects by periconceptional vitamin supplementation. Lancet (1980) 10.23
Measles-virus antibody and antigen in subacute sclerosing panencephalitis. Lancet (1967) 5.44
Further experience of vitamin supplementation for prevention of neural tube defect recurrences. Lancet (1983) 4.02
Apparent prevention of neural tube defects by periconceptional vitamin supplementation. Arch Dis Child (1981) 3.45
Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981. Int J Epidemiol (2011) 2.68
Axial mesodermal dysplasia spectrum. Am J Med Genet (1993) 2.43
Diagnostic and genetical aspects of tuberous sclerosis. J Med Genet (1968) 2.03
Rehabilitation of hemiplegia: indices of assessment and prognosis. Br Med J (1972) 1.83
Allelic and locus heterogeneity in inherited venous malformations. Hum Mol Genet (1999) 1.78
The pathogenesis of sural nerve changes in diabetes mellitus. Brain (1969) 1.76
Congenital heart disease in Down's syndrome: two year prospective early screening study. BMJ (1991) 1.64
Anencephalus and spina bifida in Belfast (1964-1968). Ulster Med J (1973) 1.61
Hyperlipidaemic xanthomatosis. II. Mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis. J Med Genet (1968) 1.59
Linkage data for Marfan syndrome and markers on chromosomes 1 and 11. J Med Genet (1990) 1.52
Neuropathological changes in the white matter following head injury. J Neuropathol Exp Neurol (1967) 1.52
Facial pain of non-dental origin. Br Dent J (1968) 1.50
Periconceptional vitamin supplementation and the prevention of neural tube defects in south-east England and Northern Ireland. J Med Genet (1984) 1.48
Saccharopinuria: a new inborn error of lysine metabolism. Nature (1968) 1.45
A revised scheme for the evaluation of automatic instruments for use in clinical chemistry. Ann Clin Biochem (1974) 1.40
A comparison of neural tube defects identified by two independent routine recording systems for congenital malformations in Northern Ireland. Int J Epidemiol (1978) 1.38
Chromosome analysis before birth and its value in genetic counselling. Br Med J (1971) 1.35
Raised alpha-fetoprotein levels in amniotic fluid and maternal serum in a triplet pregnancy in which one fetus had an omphalocoele. Br J Obstet Gynaecol (1975) 1.32
Cytogenetic analysis on children born of parents treated with immunosuppressive drugs. Proc Eur Dial Transplant Assoc (1978) 1.32
Recurrence risk of neural tube defects. Lancet (1980) 1.32
Genetic linkage of familial expansile osteolysis to chromosome 18q. Hum Mol Genet (1994) 1.32
Results of routine screening for phenylketonuria in early infancy, Northern Ireland (1960-67). Arch Dis Child (1968) 1.31
A case of the orocraniodigital (Juberg-Hayward) syndrome. J Med Genet (1981) 1.31
Factors associated with anencephalus and spina bifida in Belfast. Br J Prev Soc Med (1973) 1.27
Neural tube defect recurrence after 'partial' vitamin supplementation. J Med Genet (1989) 1.27
Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities. Health Technol Assess (2003) 1.26
The epidemiology of Huntington's disease in Northern Ireland. J Med Genet (1995) 1.25
Myelocele and alpha-fetoprotein in amniotic fluid. Lancet (1973) 1.24
Subacute sclerosing panencephalitis. Clinical, pathological, epidemiological, and virological findings in three patients. Q J Med (1968) 1.23
Synacthen Depot--Adrenal response in normal subjects and corticotrophin-treated patients. Br Med J (1968) 1.21
Internodal length of sural nerve fibres in chronic occlusive vascular disease. J Neurol Neurosurg Psychiatry (1967) 1.21
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J Med Genet (1997) 1.18
Aglossia-adactylia syndrome. J Med Genet (1975) 1.17
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. J Med Genet (1990) 1.15
Use of the 'Analmatic clinical system' in the microbiological assay of vitamin B 12 and folic acid in serum. J Clin Pathol (1971) 1.12
A study of a patient with the amyotrophic form of Creutzfeldt-Jakob disease. Brain (1971) 1.09
A recommended scheme for the evaluation of kits in the clinical laboratory. Ann Clin Biochem (1980) 1.09
Neurological manifestations in adult steatorrhoea (probable Gluten enteropathy). J Neurol Sci (1971) 1.09
Restless legs syndrome, with particular reference to its occurrence after gastric surgery. Br Med J (1970) 1.07
Guidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer. Dis Markers (1999) 1.05
Cutis gyratum, acanthosis nigricans and other congenital anomalies. A new syndrome. Br J Dermatol (1969) 1.05
The KBG syndrome, characteristic dental findings: a case report. Int J Paediatr Dent (2001) 1.04
Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). J Med Genet (1996) 1.04
A family study of spina bifida and anencephalus in Belfast, Northern Ireland (1964 to 1968). J Med Genet (1980) 1.03
Polydactyly in a carrier of the gene for the Meckel syndrome. Am J Med Genet (1994) 1.02
Gene probe analysis in an informative family with multiple endocrine neoplasia syndrome type 2A (MEN 2A). Improvement in carrier risk estimation. Q J Med (1991) 1.02
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). Genomics (1994) 1.02
Cystic fibrosis in Northern Ireland. J Med Genet (1979) 1.02
Raised alpha-fetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder caused by absence of urethra. J Med Genet (1978) 1.01
Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Hum Mol Genet (1997) 1.01
Congenital anomalies in twins in Northern Ireland. II: Neural tube defects, 1974-1979. Acta Genet Med Gemellol (Roma) (1989) 1.01
Relation of alpha-1-antitrypsin phenotype to the performance of pulmonary function tests and to the prevalence of respiratory illness in a working population. Thorax (1976) 1.00
Neural-tube defects and vitamins: the need for a randomized clinical trial. Br J Obstet Gynaecol (1985) 1.00
A prospective study of liver enzyme and other changes following repeat administration of halothane and enflurane. Br J Anaesth (1979) 0.99
Genetic disorders. Clin Obstet Gynaecol (1982) 0.99
Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach. Am J Hum Genet (1995) 0.98
Hyperlipidaemic xanthomatosis. I. Increased risk of death from ischaemic heart disease in first degree relatives of 53 patients with essential hyperlipidaemia and xanthomatosis. J Med Genet (1968) 0.97
Clinical significance of the amniotic fluid oestriol level. J Obstet Gynaecol Br Commonw (1969) 0.97
Influence of social class on the risk of recurrence of anencephalus and spina bifida. Dev Med Child Neurol (1981) 0.96
The prevalence of inherited neuromuscular disease in Northern Ireland. Neuromuscul Disord (1996) 0.95
Prevention of neural-tube-defect recurrences. Lancet (1990) 0.95
De novo direct duplication 2 (p12-->p21) with paternally inherited pericentric inversion 2p11.2 2q12.2. Clin Genet (1998) 0.95
Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance. Thorax (1998) 0.95
Clinical, biochemical and histopathological findings in a family with muscular dystrophy. Brain (1967) 0.95
Femoral nerve conduction in diabetes and chronic occlusive vascular disease. J Neurol Neurosurg Psychiatry (1968) 0.93
The use of indirect immunofluorescence to evaluate the gel filtration method of fractionating human immunoglobulins. J Immunol Methods (1975) 0.92
Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea. J Med Genet (1993) 0.92
Nervous system manifestations after gastric surgery. Acta Neurol Scand (1971) 0.91
X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28. Ophthalmic Paediatr Genet (1991) 0.91
Dysgammaglobulinaemia complicated by disseminated measles. Br Med J (1971) 0.91
Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet (1992) 0.91
Detection of maternal cell contamination in amniotic fluid cell cultures using fluorescent labelled microsatellites. J Med Genet (1995) 0.91
Idiopathic intestinal pseudo-obstruction: a familial visceral neuropathy. Clin Genet (1980) 0.91
A syndrome of brachyphalangy, polydactyly and absent tibiae. Clin Dysmorphol (1997) 0.90
Congenital familial dwarfism with cephalo-skeletal dysplasia. Ann Radiol (Paris) (1977) 0.90
Vitamin supplementation and neural tube defects. Lancet (1982) 0.90
The STR system in the human phenylalanine hydroxylase gene: true fragment length obtained with fluorescent labelled PCR primers. Acta Paediatr Suppl (1994) 0.89
An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis. J Med Genet (1996) 0.89
Family study of congenital hydrocephalus. Dev Med Child Neurol (1982) 0.89
Familial annular erythema. An apparently new dominant mutation. Br J Dermatol (1966) 0.89
Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12. Clin Genet (1996) 0.89
Laryngeal atresia or stenosis presenting as second-trimester fetal ascites--diagnosis and pathology in three independent cases. Prenat Diagn (1998) 0.89
A comparative study of peripheral nerve conduction in diabetes and non-diabetic chronic occlusive peripheral vascular disease. Brain (1969) 0.89
Automated sequencing detects all mutations in Northern Irish patients with phenylketonuria and mild hyperphenylalaninaemia. Acta Paediatr Suppl (1994) 0.88
Early amniocentesis: experience of 222 consecutive patients, 1987-1988. Prenat Diagn (1990) 0.88
Reduced muscle alpha-glucosidase (acid-maltase) activity in hypothyroid myopathy. Lancet (1970) 0.88
Comparison of central nervous system malformations in spontaneous absortions in Northern Ireland and south-east England. Br Med J (1979) 0.88
Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome. Am J Med Genet (1982) 0.88
Genetic study of congenital heart defects in Northern Ireland (1974-1978). J Med Genet (1994) 0.87
Duchenne muscular dystrophy in a female with a translocation involving Xp21. J Med Genet (1986) 0.87
Aglossia-adactylia syndrome. Oral Surg Oral Med Oral Pathol (1970) 0.86
Insurance implications for individuals with a high risk of breast and ovarian cancer in Europe. Dis Markers (1999) 0.86
ACE gene typing. Lancet (1994) 0.86
Expression of chromosome 21 specific sequences in normal and Down's syndrome tissues. Nucleic Acids Res (1988) 0.86