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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 syndrome
Angela 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 pathway
Thomas 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 pathology
Andrew 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 catabolism
Alanna 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 cohesin
Kosuke 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 humans
Andrew C Edmondson, Robert J Brown, Sekar Kathiresan, et al.
JCI Insight
|
April 8, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG
Kishore Garapati, Rohit Budhraja, Mayank Saraswat, et al.
Circulation. Cardiovascular Genetics
|
February 10, 2011
Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol
Andrew C Edmondson, Peter S Braund, Ioannis M Stylianou, et al.
Journal of Inherited Metabolic Disease
|
February 14, 2021
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG
Hind Alsharhan, Bobby G Ng, Earnest James Paul Daniel, et al.
Annals of Neurology
|
October 15, 2021
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications
Anna N Ligezka, Silvia Radenkovic, Mayank Saraswat, et al.
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of 14
Search research articles
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Showing results (101-110 of 132) with videos related to
Sort By:
Page
of 14
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 syndrome
Angela 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 pathway
Thomas 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 pathology
Andrew 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 catabolism
Alanna 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 cohesin
Kosuke 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 humans
Andrew C Edmondson, Robert J Brown, Sekar Kathiresan, et al.
JCI Insight
|
April 8, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG
Kishore Garapati, Rohit Budhraja, Mayank Saraswat, et al.
Circulation. Cardiovascular Genetics
|
February 10, 2011
Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol
Andrew C Edmondson, Peter S Braund, Ioannis M Stylianou, et al.
Journal of Inherited Metabolic Disease
|
February 14, 2021
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG
Hind Alsharhan, Bobby G Ng, Earnest James Paul Daniel, et al.
Annals of Neurology
|
October 15, 2021
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications
Anna N Ligezka, Silvia Radenkovic, Mayank Saraswat, et al.
Page
of 14