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2024
Mark ALG13-Congenital Disorder of Glycosylation (ALG13-CDG) : Updated clinical and molecular review and clinical management guidelines
Shah, Rameen ; Eklund, Erik A. ^LU ; Radenkovic, Silvia ; Sadek, Mustafa ; Shammas, Ibrahim ; Verberkmoes, Sanne ; Ng, Bobby G. ; Freeze, Hudson H. ; Edmondson, Andrew C. and He, Miao , et al. (2024) In Molecular Genetics and Metabolism 142(2).
- Contribution to journal › Scientific review
2020
Mark Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature
Johnstone, Devon L. ; Nguyen, Thi Tuyet Mai ; Zambonin, Jessica ; Kernohan, Kristin D. ; St-Denis, Anik ; Baratang, Nissan V. ; Hartley, Taila ; Geraghty, Michael T. ; Richer, Julie and Majewski, Jacek , et al. (2020) In Journal of Inherited Metabolic Disease 43(6). p.1321-1332
- Contribution to journal › Article
2010
Mark Biological, clinical and population relevance of 95 loci for blood lipids
Teslovich, Tanya M. ; Musunuru, Kiran ; Smith, Albert V. ; Edmondson, Andrew C. ; Stylianou, Ioannis M. ; Koseki, Masahiro ; Pirruccello, James P. ; Ripatti, Samuli ; Chasman, Daniel I. and Willer, Cristen J. , et al. (2010) In Nature 466(7307). p.707-713
- Contribution to journal › Article

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