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Author/Creator Spector, Elaine

1. Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. (September 2018)

Authors:
Coughlin, Curtis; Swanson, Michael; Kronquist, Kathryn; Acquaviva, Cécile; Hutchin, Tim; Rodríguez-Pombo, Pilar; Väisänen, Marja-Leena; Spector, Elaine; Creadon-Swindell, Geralyn; Brás-Goldberg, Ana; Rahikkala, Elisa; Moilanen, Jukka; Mahieu, Vincent; Matthijs, Gert; Bravo-Alonso, Irene; Pérez-Ce...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 9(2018)
Page Start:
1098
Record Type:
Journal Article
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5. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. Issue 2 (22nd February 2019)

Authors:
Coughlin, Curtis R.; Swanson, Michael A.; Spector, Elaine; Meeks, Naomi J. L.; Kronquist, Kathryn E.; Aslamy, Mezhgan; Wempe, Michael F.; van Karnebeek, Clara D. M.; Gospe, Sidney M.; Aziz, Verena G.; Tsai, Becky P.; Gao, Hanlin; Nagy, Peter L.; Hyland, Keith; van Dooren, Silvy J. M.; Salomons, G...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 2(2019)
Page Start:
353
Record Type:
Journal Article
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6. Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). (December 2018)

Authors:
Zhang, Shulin; Taylor, Annette; Huang, Xuan; Luo, Biao; Spector, Elaine; Fang, Ping; Richards, C.
Journal:
Genetics in medicine
Issue:
Volume 20:Number 12(2018)
Page Start:
1489
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗