7 results on '"Imagawa, E"'
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2. PRUNE1 ‐related disorder: Expanding the clinical spectrum
3. Confirmation of SLC5A7 ‐related distal hereditary motor neuropathy 7 in a family outside Wales
4. Detection of copy number variations in epilepsy using exome data
5. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome
6. A case of atypical Kabuki syndrome arising from a novel missense variant inHNRNPK
7. Duodenal obstruction due to Henoch-Schönlein purpura.
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