Search

Search Constraints

You searched for: Author/Creator Fazal, Sarah

Search Results

1. Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation. Issue 1 (1st August 2022)

2. RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia. (23rd March 2022)