Search

Search Constraints

You searched for: Author/Creator Caluseriu, Oana

Search Results

11. Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo. Issue 5 (23rd March 2022)

12. Is PNPT1‐related hearing loss ever non‐syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1‐related disorders. Issue 11 (23rd September 2018)

18. The novel p.Ser263Phe mutation in the human high‐affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome. Issue 10 (12th July 2019)