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2. Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. Issue 4 (5th January 2016)

3. DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. (7th December 2017)

5. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Issue 2 (8th August 2017)

10. Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant‐Filtering Interface. Issue 4 (April 2014)