Amanda Krause to Mutation
This is a "connection" page, showing publications Amanda Krause has written about Mutation.
Connection Strength
3,081
-
Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation. Mol Genet Genomic Med. 2020 08; 8(8):e1351.
Score: 0,622
-
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations. Annu Rev Genomics Hum Genet. 2018 08 31; 19:149-175.
Score: 0,550
-
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: 0,536
-
The molecular basis of spinal muscular atrophy (SMA) in South African black patients. Neuromuscul Disord. 2007 Oct; 17(9-10):684-92.
Score: 0,254
-
A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease. Am J Hum Genet. 2019 12 05; 105(6):1112-1125.
Score: 0,149
-
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: 0,133
-
Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia. Fam Cancer. 2017 07; 16(3):441-446.
Score: 0,127
-
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: 0,110
-
Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD. Pediatr Nephrol. 2015 Feb; 30(2):273-9.
Score: 0,104
-
Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients. Haemophilia. 2014 Sep; 20(5):687-92.
Score: 0,103
-
New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 2015 Jan; 23(1):92-102.
Score: 0,101
-
Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation. Genet Med. 2014 May; 16(5):400-6.
Score: 0,098
-
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: 0,098
-
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype. Mol Genet Genomic Med. 2024 Jan; 12(1):e2342.
Score: 0,050
-
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: 0,022
-
The hereditary adult-onset ataxias in South Africa. J Neurol Sci. 2003 Dec 15; 216(1):47-54.
Score: 0,012
-
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: 0,012