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Connection

Amanda Krause to Phenotype

This is a "connection" page, showing publications Amanda Krause has written about Phenotype.
Connection Strength

0,823
  1. 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.
    View in: PubMed
    Score: 0,144
  2. 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.
    View in: PubMed
    Score: 0,143
  3. A Systematic Review of the Huntington Disease-Like 2 Phenotype. J Huntingtons Dis. 2017; 6(1):37-46.
    View in: PubMed
    Score: 0,131
  4. Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation. Genet Med. 2014 May; 16(5):400-6.
    View in: PubMed
    Score: 0,105
  5. Sirenomelia: four further cases with discussion of associated upper limb defects. Clin Dysmorphol. 2012 Jul; 21(3):124-130.
    View in: PubMed
    Score: 0,096
  6. Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype. Mol Genet Genomic Med. 2024 Jan; 12(1):e2342.
    View in: PubMed
    Score: 0,053
  7. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet. 2003 Feb; 72(2):478-87.
    View in: PubMed
    Score: 0,050
  8. Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD. Pediatr Nephrol. 2015 Feb; 30(2):273-9.
    View in: PubMed
    Score: 0,028
  9. New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 2015 Jan; 23(1):92-102.
    View in: PubMed
    Score: 0,027
  10. 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.
    View in: PubMed
    Score: 0,023
  11. The hereditary adult-onset ataxias in South Africa. J Neurol Sci. 2003 Dec 15; 216(1):47-54.
    View in: PubMed
    Score: 0,013
  12. Huntington's disease confirmed by genetic testing in five African families. Mov Disord. 1998 Jul; 13(4):726-30.
    View in: PubMed
    Score: 0,009
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.