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Author/Creator McCormick, Elizabeth

1. A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. Issue 5 (3rd May 2016)

Authors:
Falk, Marni J.; Gai, Xiaowu; Shigematsu, Megumi; Vilardo, Elisa; Takase, Ryuichi; McCormick, Elizabeth; Christian, Thomas; Place, Emily; Pierce, Eric A.; Consugar, Mark; Gamper, Howard B.; Rossmanith, Walter; Hou, Ya-Ming
Journal:
RNA biology
Issue:
Volume 13:Issue 5(2016)
Page Start:
477
Record Type:
Journal Article
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2. Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. (16th March 2016)

Authors:
Li, Dong; Bhoj, Elizabeth; McCormick, Elizabeth; Wang, Fengxiang; Snyder, James; Wang, Tiancheng; Zhao, Yan; Kim, Cecilia; Chiavacci, Rosetta; Tian, Lifeng; Falk, Marni J.; Hakonarson, Hakon
Other Names:
Ban Yoshiyuki Academic Editor.
Journal:
Case reports in genetics
Issue:
Volume 2016(2016)
Page Start:
Record Type:
Journal Article
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3. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. Issue 6 (30th March 2021)

Authors:
Sheppard, Sarah E.; Campbell, Ian M.; Harr, Margaret H.; Gold, Nina; Li, Dong; Bjornsson, Hans T.; Cohen, Julie S.; Fahrner, Jill A.; Fatemi, Ali; Harris, Jacqueline R.; Nowak, Catherine; Stevens, Cathy A.; Grand, Katheryn; Au, Margaret; Graham, John M.; Sanchez‐Lara, Pedro A.; Campo, Miguel Del;...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 6(2021)
Page Start:
1649
Record Type:
Journal Article
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