Search

Search Constraints

You searched for: Author/Creator Ramsden, Simon

Search Results

5. Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods. Issue 8 (2nd December 2021)

7. The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity. Issue 1 (December 2016)

9. VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype. Issue 3 (9th March 2010)