Amanda Krause to Phenotype
This is a "connection" page, showing publications Amanda Krause has written about Phenotype.
Connection Strength
0,823
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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: 0,144
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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: 0,143
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A Systematic Review of the Huntington Disease-Like 2 Phenotype. J Huntingtons Dis. 2017; 6(1):37-46.
Score: 0,131
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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: 0,105
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Sirenomelia: four further cases with discussion of associated upper limb defects. Clin Dysmorphol. 2012 Jul; 21(3):124-130.
Score: 0,096
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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: 0,053
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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: 0,050
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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: 0,028
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New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 2015 Jan; 23(1):92-102.
Score: 0,027
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Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. Eur J Hum Genet. 2012 May; 20(5):584-7.
Score: 0,023
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The hereditary adult-onset ataxias in South Africa. J Neurol Sci. 2003 Dec 15; 216(1):47-54.
Score: 0,013
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Huntington's disease confirmed by genetic testing in five African families. Mov Disord. 1998 Jul; 13(4):726-30.
Score: 0,009