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Author/Creator Keller-Ramey, Jennifer

2. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. (5th October 2017)

Authors:
Peng, Yanyan; Shinde, Deepali N; Valencia, C Alexander; Mo, Jun-Song; Rosenfeld, Jill; Truitt Cho, Megan; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L; Lewis, Andrea M; Scaglia, Fernando; Gril, So...
Journal:
Human molecular genetics
Issue:
Volume 26:Number 24(2017:Dec. 15)
Page Start:
4937
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. Issue 3 (March 2018)

Authors:
Helgeson, Maria; Keller-Ramey, Jennifer; Knight Johnson, Amy; Lee, Jennifer A.; Magner, Daniel B.; Deml, Brett; Deml, Jacea; Hu, Ying-Ying; Li, Zejuan; Donato, Kirsten; Das, Soma; Laframboise, Rachel; Tremblay, Sandra; Krantz, Ian; Noon, Sarah; Hoganson, George; Burton, Jennifer; Schaaf, Christia...
Journal:
Journal of human genetics
Issue:
Volume 63:Issue 3(2018)
Page Start:
349
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗