Published in Nucleic Acids Res on January 25, 1991
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Association of HLA-G low expressor genotype with severe acute graft-versus-host disease after sibling bone marrow transplantation. Front Immunol (2011) 0.77
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Association of the single-nucleotide polymorphism and haplotype of the complement receptor 1 gene with malaria. Yonsei Med J (2015) 0.75
KIR repertory in patients with hematopoietic diseases and healthy family members. BMC Hematol (2016) 0.75
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Relationship among angiotensin-converting enzyme polymorphism, cardiovascular risk, and osteoporotic fractures. Eur J Rheumatol (2016) 0.75
Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran. Iran Red Crescent Med J (2016) 0.75
Polymorphism and association of growth hormone gene with growth traits in Sirohi and Barbari breeds of goat. Vet World (2015) 0.75
Genetic Polymorphisms of IL17 and Chagas Disease in the South and Southeast of Brazil. J Immunol Res (2017) 0.75
The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients. Sci Rep (2017) 0.75
Polymorphism of the Prolactin Gene and Its Relationship with Milk Production in Gir and Kankrej Cattle. J Nat Sci Biol Med (2017) 0.75
A SNP in 5' untranslated region of CD40 gene is associated with an increased risk of ischemic stroke in a Chinese population: a case-control study. Genet Mol Biol (2017) 0.75
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The HUGO Mutation Database Initiative. Science (1998) 1.95
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A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Mol Genet Metab (1999) 1.75
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5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet (1996) 1.68
Proof of "disease causing" mutation. Hum Mutat (1998) 1.68
What young people think and do when the option for cystic fibrosis carrier testing is available. J Med Genet (1993) 1.68
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Neonatal hypertyrosinemia and evidence for deficiency of ascorbic acid in Arctic and subarctic peoples. Can Med Assoc J (1975) 1.42
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia. J Inherit Metab Dis (2001) 1.42
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Novel PKU mutation on haplotype 2 in French-Canadians. Am J Hum Genet (1989) 1.40
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Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet (1995) 1.28
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A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci U S A (1999) 1.25
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am J Hum Genet (1997) 1.25
Outcome of early and long-term management of classical maple syrup urine disease. Pediatrics (1981) 1.22
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Cystic fibrosis genotypes and views on screening are both heterogeneous and population related. Am J Hum Genet (1992) 1.17
Homocysteine and risk of premature coronary heart disease. Evidence for a common gene mutation. Circulation (1996) 1.16
The application of an automated hexosaminidase assay to genetic screening. Clin Chim Acta (1974) 1.15
X-linked hypophosphatemia: effect of calcitriol on renal handling of phosphate, serum phosphate, and bone mineralization. J Clin Endocrinol Metab (1981) 1.15
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Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations. Hum Genet (1996) 1.13
Improved bacterial SOS promoter∷lux fusions for genotoxicity detection. Mutat Res (2000) 1.12
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