Amanda Krause to South Africa
This is a "connection" page, showing publications Amanda Krause has written about South Africa.
Connection Strength
1,128
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Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation. Mol Genet Genomic Med. 2020 08; 8(8):e1351.
Score: 0,070
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Role of family history and clinical screening in the identification of families with idiopathic dilated cardiomyopathy in Johannesburg, South Africa. S Afr Med J. 2019 Aug 28; 109(9):673-678.
Score: 0,066
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Review of 10 years of preimplantation genetic diagnosis in South Africa: implications for a low-to-middle-income country. J Assist Reprod Genet. 2019 Sep; 36(9):1909-1916.
Score: 0,065
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Fanconi anaemia in South Africa: Past, present and future. S Afr Med J. 2018 Apr 25; 108(5):393-398.
Score: 0,060
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A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci. J Neurol Sci. 2018 07 15; 390:200-204.
Score: 0,060
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Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia. Fam Cancer. 2017 07; 16(3):441-446.
Score: 0,057
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Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype. Am J Med Genet B Neuropsychiatr Genet. 2015 Oct; 168(7):573-85.
Score: 0,049
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Hematological consequences of a FANCG founder mutation in Black South African patients with Fanconi anemia. Blood Cells Mol Dis. 2015 Mar; 54(3):270-4.
Score: 0,047
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Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients. Haemophilia. 2014 Sep; 20(5):687-92.
Score: 0,046
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Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation. Genet Med. 2014 May; 16(5):400-6.
Score: 0,044
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Human genetics in Johannesburg, South Africa: past, present and future. S Afr Med J. 2013 Oct 11; 103(12 Suppl 1):957-61.
Score: 0,044
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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: 0,044
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Testing for haemoglobinopathies in Johannesburg, South Africa: a 30-year review. S Afr Med J. 2013 Oct 11; 103(12 Suppl 1):989-93.
Score: 0,044
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Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: a 20-year review. S Afr Med J. 2013 Oct 11; 103(12 Suppl 1):994-8.
Score: 0,044
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Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, South Africa. S Afr Med J. 2013 Oct 10; 103(12 Suppl 1):999-1004.
Score: 0,044
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Roles of genetic counselors in South Africa. J Genet Couns. 2013 Dec; 22(6):753-61.
Score: 0,043
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The utilization and outcome of diagnostic, predictive, and prenatal genetic testing for huntington disease in johannesburg, South Africa. Genet Test Mol Biomarkers. 2012 Jan; 16(1):58-62.
Score: 0,038
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Novel CYP2C9 and VKORC1 gene variants associated with warfarin dosage variability in the South African black population. Pharmacogenomics. 2011 Jul; 12(7):953-63.
Score: 0,037
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Genetic testing for Huntington's disease in South Africa. S Afr Med J. 2008 Mar; 98(3):193-4.
Score: 0,030
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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: 0,028
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Atypical Presentations of Huntington Disease-like 2 in South African Individuals. Mov Disord Clin Pract. 2024 Jul; 11(7):850-854.
Score: 0,023
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Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype. Mol Genet Genomic Med. 2024 Jan; 12(1):e2342.
Score: 0,022
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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: 0,017
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Different molecular basis for spinal muscular atrophy in South African black patients. Am J Med Genet. 1999 Oct 29; 86(5):420-6.
Score: 0,017
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The Frequency of Huntington Disease and Huntington Disease-Like 2 in the South African Population. Neuroepidemiology. 2016; 46(3):198-202.
Score: 0,013
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Implications of direct-to-consumer whole-exome sequencing in South Africa. S Afr Med J. 2016 Jan 12; 106(2):139-40.
Score: 0,013
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Uptake of Genetic Counseling, Knowledge of Bleeding risks and Psychosocial Impact in a South African Cohort of Female Relatives of People with Hemophilia. J Genet Couns. 2015 Dec; 24(6):978-86.
Score: 0,012
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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: 0,012
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Professor Trefor Jenkins: a tribute. S Afr Med J. 2013 Oct 16; 103(12 Suppl 1):956-1034.
Score: 0,011
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Neural tube defects in Gauteng, South Africa: recurrence risks and associated factors. S Afr Med J. 2013 Sep 17; 103(12 Suppl 1):973-7.
Score: 0,011
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Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes. Eur J Hum Genet. 2013 Oct; 21(10):1120-7.
Score: 0,011
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The hereditary adult-onset ataxias in South Africa. J Neurol Sci. 2003 Dec 15; 216(1):47-54.
Score: 0,006
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Huntington's disease confirmed by genetic testing in five African families. Mov Disord. 1998 Jul; 13(4):726-30.
Score: 0,004