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Connection

Amanda Krause to Child, Preschool

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

0,487
  1. Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation. Mol Genet Genomic Med. 2020 08; 8(8):e1351.
    View in: PubMed
    Score: 0,122
  2. Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia. Fam Cancer. 2017 07; 16(3):441-446.
    View in: PubMed
    Score: 0,100
  3. 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.
    View in: PubMed
    Score: 0,083
  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: 0,077
  5. 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.
    View in: PubMed
    Score: 0,030
  6. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. J Neuromuscul Dis. 2019; 6(2):241-258.
    View in: PubMed
    Score: 0,028
  7. 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: 0,021
  8. 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: 0,017
  9. 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: 0,009
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.