Published in Mayo Clin Proc on August 01, 2001
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Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department. Mayo Clin Proc (2001) 1.35
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Multiple patterns of resistance of human leukemia cell sublines to amsacrine analogues. J Natl Cancer Inst (1990) 1.57
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease. Neurology (2000) 1.56
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1. Am J Hum Genet (2001) 1.27
Converting visual acuity to utilities. Can J Ophthalmol (2000) 1.20
Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin. Genet Med (2001) 1.00
Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. Am J Med Genet (1998) 0.98
H63D is an haemochromatosis associated allele. Gut (1998) 0.97
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Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1. Hemoglobin (2001) 0.87
Mannose-binding lectin (MBL) deficiency. Variant alleles in a midwestern population of the United States. Ann Allergy Asthma Immunol (1999) 0.87
False-positive Y-microdeletion result for a fertile male caused by an alteration under a PCR primer. Int J Androl (2002) 0.86
Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study. Am J Med Genet (2000) 0.85
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Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography. Genet Test (2001) 0.85
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The significance of size in the immature stages of the Ixodoidea. Parasitology (1966) 0.84
The APC E1317Q variant in adenomatous polyps and colorectal cancers. Cancer Epidemiol Biomarkers Prev (2003) 0.84
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Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays. Mol Genet Metab (2001) 0.78
Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability. Genet Test (2000) 0.78
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Molecular analysis of the Huntington's disease gene in New Zealand. N Z Med J (1996) 0.76
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Double heterozygosity for Hb G-San Jose [beta7(A4)Glu-->Gly] and Hb Fukuoka [beta2(NA2)His-->Tyr] in a 2 1/2-year-old girl. Hemoglobin (1999) 0.75
Operationalizing Donna Wong's principle of atraumatic care: pain management protocol in the NICU. Pediatr Nurs (1998) 0.75
Clostridium difficile-associated diarrhea in acute and long-term care facilities. Am J Ther (1998) 0.75
Program for controlling the use of ondansetron injection. Am J Hosp Pharm (1994) 0.75
DNA sequence analysis of Hb Leiden [beta6(A3) or beta7(A4) Glu-->0]. Hemoglobin (1999) 0.75
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Chicago by the sea: AJN JobFocus. Am J Nurs (1986) 0.75
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The relationship of sensorimotor functioning to children's response to early language training. Ment Retard (1983) 0.75
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Yesterday's O.R. Todays OR Nurse (1985) 0.75