Search

Search Constraints

You searched for: Author/Creator Okuno, Y.

Search Results

2. A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient. (1st February 2018)

3. A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient. (22nd December 2017)

6. Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia. (13th June 2016)

8. Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations. (27th October 2021)