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Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. Am J Hum Genet (1998) 1.50

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Modeling congenital disease and inborn errors of development in Drosophila melanogaster. Dis Model Mech (2016) 0.79

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Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome. Case Rep Pediatr (2014) 0.75

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Clinical longitudinal standards for height, weight, height velocity, weight velocity, and stages of puberty. Arch Dis Child (1976) 12.33

Standards for birthweight as gestation periods from 32 to 42 weeks, allowing for maternal height and weight. Arch Dis Child (1970) 6.47

The spectrum of the DiGeorge syndrome. J Pediatr (1979) 3.24

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Consanguineous matings in the Egyptian population. J Med Genet (1983) 1.54

The effect of consanguineous marriages on reproductive wastage. Clin Genet (1986) 1.22

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The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy. Am J Med Genet (1983) 1.20

Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one. J Pediatr (1986) 1.19

Consanguinity and incidence of thalassaemia in Egypt. Hereditas (1983) 0.93

Accuracy of the typical computed tomographic appearances of fibrosing alveolitis. Thorax (1993) 2.33

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization. Clin Endocrinol (Oxf) (2001) 2.16

Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. Arch Dis Child (1993) 1.47

The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis. J Clin Endocrinol Metab (1996) 1.38

Outcome in tyrosinaemia type II. Arch Dis Child (1991) 1.13

Antibiotic interference in urinary thiosulphate measurements. J Inherit Metab Dis (1994) 1.05

Behavioral responses to ethanol in light and moderate social drinkers following naltrexone pretreatment. Drug Alcohol Depend (1997) 1.04

Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II. Hum Genet (1998) 1.02

Biochemical evidence for an increased and progressive deposition of collagen in lungs of patients with pulmonary fibrosis. Clin Sci (Lond) (1986) 1.01

Diabetic ketoacidosis in Asian children. Arch Dis Child (2001) 0.99

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Quantitation of types I and III collagen in biopsy lung samples from patients with cryptogenic fibrosing alveolitis. Coll Relat Res (1984) 0.98

Serum type III procollagen peptide concentrations in systemic sclerosis and Raynaud's phenomenon: relationship to disease activity and duration. Br J Rheumatol (1989) 0.95

Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation. Clin Genet (1986) 0.94

A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3). Nucleic Acids Res (1991) 0.93

Measurement of osmolality and sodium concentration in heated-cup sweat collections for the investigation of cystic fibrosis. Ann Clin Biochem (1983) 0.93

Growth after gut resection for Crohn's disease. Arch Dis Child (1991) 0.91

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. J Lipid Res (2000) 0.90

Growth in CHARGE association. Arch Dis Child (1993) 0.89

Congenital hypothyroidism, seasonality and consanguinity in the West Midlands, England. Acta Paediatr (1999) 0.85

Transcutaneous bilirubinometry as a screening tool for neonatal jaundice. Scott Med J (1995) 0.82

Short report: Hyperammonaemia in critically ill septic infants. Arch Dis Child (2001) 0.81

P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population. J Med Genet (1998) 0.80

Physical and sexual abuse in female patients with fibromyalgia. J Clin Rheumatol (1998) 0.77

First trimester diagnosis of primary hyperoxaluria type I. Lancet (1994) 0.76

Pyridostigmine partially reverses dexamethasone-induced inhibition of the growth hormone response to growth hormone-releasing hormone. J Endocrinol (1992) 0.75

Quantitative growth hormone secretion and final adult height. Clin Endocrinol (Oxf) (1999) 0.75

The effects on anterior pituitary hormone secretion of salmon calcitonin in healthy volunteers. Clin Endocrinol (Oxf) (1991) 0.75

Acceleration of pubertal development following pituitary radiotherapy for Cushing's disease. Clin Oncol (R Coll Radiol) (1993) 0.75

Growth hormone response to overnight growth hormone-releasing hormone infusion and oral pyridostigmine in children with short stature. Acta Paediatr Scand Suppl (1989) 0.75

False negative thiosulphate screening test in a case of molybdenum cofactor deficiency. J Inherit Metab Dis (1999) 0.75

Calibration of 3-hydroxybutyrate assays. Clin Chem (1985) 0.75

Pituitary gigantism causing diabetic ketoacidosis. J Pediatr Endocrinol Metab (2000) 0.75

Surgical reinforcement of gender identity in adolescent intersex patients. Urol Int (1992) 0.75

Subcutaneous growth hormone-releasing hormone augments pulsatile nocturnal GH release in GH-insufficient children, but may also raise basal GH secretion. Clin Endocrinol (Oxf) (1990) 0.75