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Author/Creator Boerkoel, Cornelius F

1. A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. (6th January 2020)

Authors:
Zhang, Wenyue; James, Philip M; Ng, Bobby G; Li, Xueli; Xia, Baoyun; Rong, Jiang; Asif, Ghazia; Raymond, Kimiyo; Jones, Melanie A; Hegde, Madhuri; Ju, Tongzhong; Cummings, Richard D; Clarkson, Katie; Wood, Tim; Boerkoel, Cornelius F; Freeze, Hudson H; He, Miao
Journal:
Clinical chemistry
Issue:
Volume 62:Number 1(2016)
Page Start:
208
Record Type:
Journal Article
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2. Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. Issue 3 (14th December 2015)

Authors:
Davids, Mariska; Kane, Megan S; He, Miao; Wolfe, Lynne A; Li, Xueli; Raihan, Mohd A; Chao, Katherine R; Bone, William P; Boerkoel, Cornelius F; Gahl, William A; Toro, Camilo
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 3(2016)
Page Start:
180
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Issue Volume 47:Issue D1(2019) (22nd November 2018)

Authors:
Köhler, Sebastian; Carmody, Leigh; Vasilevsky, Nicole; Jacobsen, Julius O B; Danis, Daniel; Gourdine, Jean-Philippe; Gargano, Michael; Harris, Nomi L; Matentzoglu, Nicolas; McMurry, Julie A; Osumi-Sutherland, David; Cipriani, Valentina; Balhoff, James P; Conlin, Tom; Blau, Hannah; Baynam, Ga...
Journal:
Nucleic acids research
Issue:
Volume 47:Issue D1(2019)
Page Start:
D1018
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗