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Author/Creator Scaglia, Fernando

31. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Issue 7 (24th April 2019)

Authors:
Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon‐Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein...
Journal:
Human mutation
Issue:
Volume 40:Issue 7(2019)
Page Start:
908
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

33. Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects. Issue 6 (2nd April 2013)

Authors:
Tang, Sha; Wang, Jing; Zhang, Victor Wei; Li, Fang‐Yuan; Landsverk, Megan; Cui, Hong; Truong, Cavatina K.; Wang, Guoli; Chen, Li Chieh; Graham, Brett; Scaglia, Fernando; Schmitt, Eric S.; Craigen, William J.; Wong, Lee‐Jun C.
Journal:
Human mutation
Issue:
Volume 34:Issue 6(2013:Jun.)
Page Start:
882
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗