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3. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. Issue 3 (15th January 2014)

6. Back Cover, Volume 43, Issue 7. Issue 7 (8th June 2022)

8. Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy. (7th January 2021)

9. Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion12. Issue 1 (7th December 2012)