Connection

MUSTAFA OZEN to Mutation

This is a "connection" page, showing publications MUSTAFA OZEN has written about Mutation.
Connection Strength

0.877
  1. Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes. Am J Med Genet A. 2019 04; 179(4):579-587.
    View in: PubMed
    Score: 0.242
  2. Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome. Gene. 2016 Feb 01; 576(2 Pt 2):776-81.
    View in: PubMed
    Score: 0.193
  3. Whole-exome sequencing revealed two novel mutations in Usher syndrome. Gene. 2015 Jun 01; 563(2):215-8.
    View in: PubMed
    Score: 0.185
  4. A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication. Gene. 2013 Sep 25; 527(2):675-8.
    View in: PubMed
    Score: 0.164
  5. Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. Orphanet J Rare Dis. 2015 Sep 30; 10:128.
    View in: PubMed
    Score: 0.048
  6. Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review. Am J Med Genet A. 2014 Oct; 164A(10):2535-40.
    View in: PubMed
    Score: 0.044
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.