Amanda Krause to Male
This is a "connection" page, showing publications Amanda Krause has written about Male.
Connection Strength
1,084
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Comparative analysis of neurofilament light chain in Huntington's disease like 2 and Huntington's disease. J Huntingtons Dis. 2025 Feb; 14(1):103-108.
Score: 0,105
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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: 0,077
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The neuropsychological deficits and dissociations in Huntington Disease-Like 2: A series of case-control studies. Neuropsychologia. 2020 01; 136:107238.
Score: 0,074
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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: 0,073
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The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome. Fam Cancer. 2018 10; 17(4):607-613.
Score: 0,068
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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: 0,063
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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: 0,054
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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: 0,052
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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: 0,051
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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: 0,048
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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: 0,048
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Sirenomelia: four further cases with discussion of associated upper limb defects. Clin Dysmorphol. 2012 Jul; 21(3):124-130.
Score: 0,044
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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: 0,042
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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: 0,041
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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: 0,031
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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: 0,025
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Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility. HGG Adv. 2024 Jan 11; 5(1):100244.
Score: 0,024
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Clinical characteristics and one-year all-cause mortality outcomes in Africans with dilated cardiomyopathy. Int J Cardiol. 2023 09 15; 387:131142.
Score: 0,024
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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: 0,019
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The Neuropsychiatry of Huntington Disease-Like 2: A Comparison with Huntington's Disease. J Huntingtons Dis. 2020; 9(4):325-334.
Score: 0,019
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Emerging differences between Huntington's disease-like 2 and Huntington's disease: A comparison using MRI brain volumetry. Neuroimage Clin. 2019; 21:101666.
Score: 0,017
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Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. J Neuromuscul Dis. 2019; 6(2):241-258.
Score: 0,017
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A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males. Am J Med Genet A. 2018 04; 176(4):980-984.
Score: 0,016
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The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population. Am J Med Genet B Neuropsychiatr Genet. 2018 04; 177(3):346-357.
Score: 0,016
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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: 0,013
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Huntington's Disease-like 2 (HDL2) in North America and Japan. Ann Neurol. 2004 Nov; 56(5):670-4.
Score: 0,007
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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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FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet. 2003 Feb; 72(2):478-87.
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