Amanda Krause to DNA Mutational Analysis
This is a "connection" page, showing publications Amanda Krause has written about DNA Mutational Analysis.
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Fanconi anaemia in black South African patients heterozygous for the FANCG c.637-643delTACCGCC founder mutation. S Afr Med J. 2013 Oct 11; 103(12 Suppl 1):970-3.
Score: 0,110
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Genetic testing for Huntington's disease in South Africa. S Afr Med J. 2008 Mar; 98(3):193-4.
Score: 0,075
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The molecular basis of spinal muscular atrophy (SMA) in South African black patients. Neuromuscul Disord. 2007 Oct; 17(9-10):684-92.
Score: 0,071
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Five years of screening for galactosaemia in South Africa: Pitfalls of using Benedict's test and thin layer chromatography to screen for galactosaemia in a developing country. Clin Chim Acta. 2020 Jun; 505:73-77.
Score: 0,043
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Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD. Pediatr Nephrol. 2015 Feb; 30(2):273-9.
Score: 0,029
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New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 2015 Jan; 23(1):92-102.
Score: 0,028
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The hereditary adult-onset ataxias in South Africa. J Neurol Sci. 2003 Dec 15; 216(1):47-54.
Score: 0,014