Search

Author/Creator Smith, Amanda C.

1. A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9. Issue 4 (20th March 2018)

Authors:
Smith, Amanda C.; Ito, Yoko; Ahmed, Afsana; Schwartzentruber, Jeremy A.; Beaulieu, Chandree L.; Aberg, Erika; Majewski, Jacek; Bulman, Dennis E.; Horsting‐Wethly, Karina; Koning, Diana Vermunt‐de; Rodenburg, Richard J.; Boycott, Kym M.; Penney, Lynette S.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 4(2018)
Page Start:
719
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Issue 2 (19th November 2015)

Authors:
Huang, Lijia; Vanstone, Megan R.; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A.; Dipple, Katrina M.; Dobyns, William B.; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P.; Goel, Himanshu; Gregersen, Pernille A.; Gripp, Karen W.; Grix, Art; G...
Journal:
Human mutation
Issue:
Volume 37:Issue 2(2016)
Page Start:
148
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. Issue 7 (5th June 2014)

Authors:
Venkateswaran, Sunita; Myers, Ken A.; Smith, Amanda C.; Beaulieu, Chandree L.; Schwartzentruber, Jeremy A.; FORGE Canada Consortium; Majewski, Jacek; Bulman, Dennis; Boycott, Kym M.; Dyment, David A.
Journal:
Epilepsia
Issue:
Volume 55:Issue 7(2014:Jul.)
Page Start:
e75
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗