Published in Am J Hum Genet on March 01, 1996
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Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. Am J Respir Crit Care Med (1995) 1.60
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Comparison of culture and PCR for detection of Burkholderia cepacia in sputum samples of patients with cystic fibrosis. J Clin Microbiol (1998) 1.50
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A multicenter comparison of dialysis membranes in the treatment of acute renal failure requiring dialysis. J Am Soc Nephrol (1998) 1.41
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A 26-year-old woman seeking an abortion, 1 year later. JAMA (2000) 1.38
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Genetic analysis of familial isolated growth hormone deficiency type I. J Clin Invest (1982) 1.36
Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA. Hum Mol Genet (1998) 1.35
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Spontaneous dietary protein intake during progression of chronic renal failure. J Am Soc Nephrol (1995) 1.31
Effects of protriptyline on sleep related disturbances of breathing in restrictive chest wall disease. Thorax (1986) 1.31
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The course of seizure disorders in patients with malignant gliomas. Arch Neurol (1995) 1.18
Two patients with ring chromosome 15 syndrome. Am J Med Genet (1988) 1.17
Anatomic constraints on cognitive theories of category specificity. Neuroimage (2002) 1.15
Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proc Natl Acad Sci U S A (1991) 1.15
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Activation of the branched-chain alpha-ketoacid dehydrogenase complex by a broad specificity protein phosphatase. Biochem Biophys Res Commun (1982) 1.11
A novel mechanism of aberrant pre-mRNA splicing in humans. Hum Mol Genet (1997) 1.11
A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus. Hum Genet (1985) 1.11