Published in Am J Med Genet on March 01, 1983
Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet (1987) 1.37
A case of Fryns syndrome. J Med Genet (1986) 1.20
Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome? J Med Genet (1988) 0.80
Prenatal diagnosis of congenital diaphragmatic hernia in a fetus with 46,XY/46,X,-Y,+der(Y)t(Y;1)(q12;q12) mosaicism: a case report. J Korean Med Sci (2005) 0.80
Two fetuses with Fryns syndrome without diaphragmatic defects. J Med Genet (1994) 0.76
Congenital diaphragmatic hernia: influence of associated malformations on survival. Arch Dis Child Fetal Neonatal Ed (1994) 0.75
Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia. Pediatr Surg Int (2011) 0.75
New tools for studying osteoarthritis genetics in zebrafish. Osteoarthritis Cartilage (2012) 1.59
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. Am J Hum Genet (1989) 1.29
Predictions of sediment toxicity using consensus-based freshwater sediment quality guidelines. Arch Environ Contam Toxicol (2001) 1.17
Familial amniotic bands. Am J Med Genet (1983) 1.12
Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. Pediatrics (1983) 1.07
Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. Am J Med Genet (1985) 1.05
Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome. Lancet (1974) 1.04
Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome--a commentary on reported cases. Am J Med Genet Suppl (1987) 1.00
Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases. Eur J Pediatr (1976) 0.88
Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations. J Clin Dysmorphol (1983) 0.81
Endocarditis caused by Actinobacillus actinomycetemcomitans. J Clin Microbiol (1984) 0.81
Autoradiographic evidence for a calcitonin receptor on testicular Leydig cells. Science (1982) 0.81
Etiologic heterogeneity in the oculoauriculovertebral syndrome. J Pediatr (1981) 0.81
Familial amniotic bands. J Pediatr (1983) 0.81
Further delineation of the 10p deletion syndrome. Pediatrics (1984) 0.80
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. Hum Mutat (2001) 0.79
Minimum guidelines for the delivery of prenatal genetics services. The evaluation of clinical services subcommittee, Great Lakes Regional Genetics Group. Genet Med (2001) 0.75
Behavioral consequences of congenital rubella. J Pediatr (1979) 0.75
A case report of Teschler-Nicola/Killian syndrome. J Clin Dysmorphol (1983) 0.75
Prostatic chondroma. Urology (1985) 0.75
The Gravlee Jet Washer. Nebr Med J (1976) 0.75
Transient fetal hydrops and "prune belly" in one identical female twin. N Engl J Med (1983) 0.75
The association of "prune belly" with Turner's syndrome. Am J Dis Child (1980) 0.75
Inheritance of pseudohypoparathyroidism. Am J Dis Child (1985) 0.75
Unusual appearance in a child. When and how to search for a possible syndrome. Postgrad Med (1983) 0.75