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Author/Creator Boczek, Nicole

2. A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics. Issue 1 (December 2016)

Authors:
Blackburn, Patrick; Zimmermann, Michael; Gass, Jennifer; Harris, Kimberly; Cousin, Margot; Boczek, Nicole; Ross, Owen; Klee, Eric; Brazis, Paul; Van Gerpen, Jay; Atwal, Paldeep
Journal:
BMC medical genetics
Issue:
Volume 17:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. (December 2018)

Authors:
Boczek, Nicole; Hopp, Katharina; Benoit, Lacey; Kraft, Daniel; Cousin, Margot; Blackburn, Patrick; Madsen, Charles; Oliver, Gavin; Nair, Asha; Na, Jie; Bianchi, Diana; Beek, Geoffrey; Harris, Peter; Pichurin, Pavel; Klee, Eric
Journal:
European journal of human genetics
Issue:
Volume 26:Number 12(2018)
Page Start:
1797
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗