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Author/Creator Curry, C.J.

2. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Issue 4 (27th November 2015)

Authors:
Avila, M.; Dyment, D.A.; Sagen, J.V.; St‐Onge, J.; Moog, U.; Chung, B.H.Y.; Mo, S.; Mansour, S.; Albanese, A.; Garcia, S.; Martin, D.O.; Lopez, A.A.; Claudi, T.; König, R.; White, S.M.; Sawyer, S.L.; Bernstein, J.A.; Slattery, L.; Jobling, R.K.; Yoon, G.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 4(2016)
Page Start:
501
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. Issue 2 (12th December 2017)

Authors:
Hartley, T.; Wagner, J.D.; Warman‐Chardon, J.; Tétreault, M.; Brady, L.; Baker, S.; Tarnopolsky, M.; Bourque, P.R.; Parboosingh, J.S.; Smith, C.; McInnes, B.; Innes, A.M.; Bernier, F.; Curry, C.J.; Yoon, G.; Horvath, G.A.; Bareke, E.; Gillespie, M.; Majewski, J.; Bulman, D.E.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 2(2018)
Page Start:
301
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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