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Andrew C Edmondson

Showing results (41-50 of 73) with videos related to

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Journal of Inherited Metabolic Disease|June 18, 2022
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelinesDaniah Albokhari, Bobby G Ng, Alis Guberinic, et al.
Molecular Genetics and Metabolism|April 24, 2026
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDGKyriakie Sarafoglou, Christina Lam, Andrew C Edmondson, et al.
Molecular Genetics and Metabolism|June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
American Journal of Medical Genetics. Part A|June 16, 2016
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndromeAngela E Lin, Caroline Michot, Valerie Cormier-Daire, et al.
The Journal of Biological Chemistry|May 31, 2025
Map of the neuronal O-glycoproteome reveals driver functions in the regulated secretory pathwayThomas D Madsen, Asli B Topaktas, Leo A Dworkin, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathologyAndrew C Edmondson, Rohit Budhraja, Zijie Xia, et al.
The Journal of Clinical Investigation|July 4, 2012
Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolismAlanna Strong, Qiurong Ding, Andrew C Edmondson, et al.
Nature Genetics|March 3, 2015
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesinKosuke Izumi, Ryuichiro Nakato, Zhe Zhang, et al.
The Journal of Clinical Investigation|March 17, 2009
Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humansAndrew C Edmondson, Robert J Brown, Sekar Kathiresan, et al.
JCI Insight|April 8, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDGKishore Garapati, Rohit Budhraja, Mayank Saraswat, et al.
Pageof 8

Showing results (41-50 of 73) with videos related to

Sort By:
Pageof 8
Journal of Inherited Metabolic Disease|June 18, 2022
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelinesDaniah Albokhari, Bobby G Ng, Alis Guberinic, et al.
Molecular Genetics and Metabolism|April 24, 2026
Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDGKyriakie Sarafoglou, Christina Lam, Andrew C Edmondson, et al.
Molecular Genetics and Metabolism|June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
American Journal of Medical Genetics. Part A|June 16, 2016
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndromeAngela E Lin, Caroline Michot, Valerie Cormier-Daire, et al.
The Journal of Biological Chemistry|May 31, 2025
Map of the neuronal O-glycoproteome reveals driver functions in the regulated secretory pathwayThomas D Madsen, Asli B Topaktas, Leo A Dworkin, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathologyAndrew C Edmondson, Rohit Budhraja, Zijie Xia, et al.
The Journal of Clinical Investigation|July 4, 2012
Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolismAlanna Strong, Qiurong Ding, Andrew C Edmondson, et al.
Nature Genetics|March 3, 2015
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesinKosuke Izumi, Ryuichiro Nakato, Zhe Zhang, et al.
The Journal of Clinical Investigation|March 17, 2009
Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humansAndrew C Edmondson, Robert J Brown, Sekar Kathiresan, et al.
JCI Insight|April 8, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDGKishore Garapati, Rohit Budhraja, Mayank Saraswat, et al.
Pageof 8