Published in Science on December 16, 1977
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy. Int J Audiol (2012) 0.96
Retinoic acid embryopathy. N Engl J Med (1985) 5.85
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet (1980) 2.02
Coordinate induction of energy gene expression in tissues of mitochondrial disease patients. J Biol Chem (1999) 2.02
NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. J Neurosci (2008) 1.70
The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. N Engl J Med (1984) 1.56
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr (2000) 1.48
Immunoglobulin G- and M-specific enzyme-linked immunosorbent assay for detection of dengue antibodies. J Clin Microbiol (1979) 1.48
A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet (1996) 1.27
The isotretinoin teratogen syndrome. JAMA (1984) 1.22
OA1 mutations and deletions in X-linked ocular albinism. Am J Hum Genet (1998) 1.15
Purine dysfunction in cells from patients with adenosine deaminase deficiency. Pediatr Res (1976) 1.06
A sodium transport inhibitory factor in the saliva of patients with cystic fibrosis of the pancreas. Pediatr Res (1967) 1.00
Monoclonal antibodies specific for dengue virus type 3. J Clin Microbiol (1980) 0.92
Azaguanine-resistance as a manifestation of a new form of metabolic overproduction of uric acid. Am J Med (1972) 0.89
Biochemical evidence for a distinct type of primary gout. Nature (1967) 0.89
Caution: telomere crossing. Am J Med Genet (1999) 0.89
Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses. Clin Genet (2005) 0.88
Demonstration of interference between dengue virus types in cultured mosquito cells using monoclonal antibody probes. J Gen Virol (1982) 0.88
New form of adrenoleukodystrophy. Hum Genet (1981) 0.85
Transport of hypoxanthine in fibroblasts with normal and mutant hypoxanthine-guanine phosphoribosyltransferase. Biochem Med (1973) 0.83
Black children deficient in galactose 1-phosphate uridyltransferase: correlation of activity and immunoreactive protein in erythrocytes and leukocytes. J Pediatr (1997) 0.82
Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis. J Clin Invest (1973) 0.82
Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH. Cytogenet Genome Res (2007) 0.81
FG syndrome update 1988: note of 5 new patients and bibliography. Am J Med Genet (1988) 0.80
X-linked Leigh's syndrome. Hum Genet (1982) 0.78
Recurrence of holoprosencephaly in families with a positive history. Clin Genet (1983) 0.78
Transport of labelled compounds in control and cystic-fibrosis cells in vitro. Lancet (1972) 0.77
Uric acid metabolism in therapy of glycogen storage disease type I. Pediatr Res (1978) 0.77
Jessica in the well: ischemia and reperfusion injury. JAMA (1988) 0.75
Osteoporotic bone disease in the pyridoxine-deficient rat. Biochem Med (1972) 0.75
Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome. J Med Genet (1981) 0.75
Epithelial cells and Von Gierke's disease. Pediatr Res (1977) 0.75
Screening newborn infants for disease. Perspect Biol Med (1975) 0.75
Adenine and folic acid in the Lesch-Nyhan syndrome. Pediatr Res (1973) 0.75
[Ender nailing - experiences and results (author's transl)]. Aktuelle Traumatol (1980) 0.75
XK aprosencephaly may be a new mutation or a dominant genetic defect. Am J Med Genet (1989) 0.75
Excessive purine synthesis and neurologic dysfunction in children. Arthritis Rheum (1971) 0.75
Twins discordant for Down's syndrome. Clin Genet (1982) 0.75
Beta glucuronidase and cystic fibrosis. N Engl J Med (1971) 0.75
Salivary gland enlargement and functional changes during feeding of pancreatin to rats. (Possible relation to functional changes in cystic fibrosis). Pediatr Res (1969) 0.75
[Rare tumours of the duodenum and their differential diagnosis]. Fortschr Geb Rontgenstr Nuklearmed (1973) 0.75
Enzyme-linked immunosorbent choriomammotropin assay. Clin Chem (1979) 0.75
Human lymphocyte response to D-valine media. Biochim Biophys Acta (1976) 0.75
In vitro effects of magnesium ions on mutant cells from patients with the Lesch-Nyhan syndrome. N Engl J Med (1973) 0.75
Segregation of lymphocyte low molecular weight DNA and antinuclear antibodies in a family with systemic lupus erythematosus in first cousins. Hum Genet (1991) 0.75
Replication of dengue virus in cultured mosquito cells at suboptimal temperature. Proc Soc Exp Biol Med (1982) 0.75
Epithelial cell cultures from amniotic fluid for prenatal diagnosis. Birth Defects Orig Artic Ser (1980) 0.75
Retracted Segregation of lymphocyte low-molecular-weight DNA and antinuclear-antibodies in a family with systemic lupus erythematosus in first cousins. Hum Genet (1988) 0.75
Studies on basic charged molecules and cell membranes in cystic fibrosis. Proc Soc Exp Biol Med (1971) 0.75
Methodological differences in correlating digoxin dissolution with bioavailability. J Pharm Sci (1975) 0.75
False positive prenatal diagnosis of cystic fibrosis by protease assay. Am J Obstet Gynecol (1983) 0.75
Decreased carnitine uptake in cultured cells from a woman with endogenous obesity. Horm Metab Res (1983) 0.75
Alteration of purine control mechanisms in patients with the Lesch-Nyhan mutation. Wis Med J (1971) 0.75
Salivary gland enlargement and functional changes during feeding of pancreatin to rats (possible relationship to pathophysiology of cystic fibrosis). J Pediatr (1969) 0.75
Properties of cultured epithelial cells from liver and amniotic fluid. Kobe J Med Sci (1983) 0.75