MUSTAFA OZEN to Mutation
This is a "connection" page, showing publications MUSTAFA OZEN has written about Mutation.
Connection Strength
0.877
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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.
Score: 0.242
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Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome. Gene. 2016 Feb 01; 576(2 Pt 2):776-81.
Score: 0.193
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Whole-exome sequencing revealed two novel mutations in Usher syndrome. Gene. 2015 Jun 01; 563(2):215-8.
Score: 0.185
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A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication. Gene. 2013 Sep 25; 527(2):675-8.
Score: 0.164
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Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. Orphanet J Rare Dis. 2015 Sep 30; 10:128.
Score: 0.048
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Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review. Am J Med Genet A. 2014 Oct; 164A(10):2535-40.
Score: 0.044