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Circulation. Cardiovascular Genetics
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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.
American Journal of Human Genetics
|
April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
Silvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
Human Mutation
|
April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Journal of Inherited Metabolic Disease
|
January 18, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, et al.
Science Advances
|
April 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation
Robert Wang, Feng Wang, Nicole DeBruyne, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 12, 2018
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals"
Kai Lee Yap, Amy E Knight Johnson, David Fischer, et al.
Journal of Inherited Metabolic Disease
|
March 18, 2021
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
Hind Alsharhan, Miao He, Andrew C Edmondson, et al.
Journal of Inherited Metabolic Disease
|
June 27, 2020
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
Devon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.
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Search research articles
Search
Showing results (51-60 of 73) with videos related to
Sort By:
Page
of 8
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.
American Journal of Human Genetics
|
April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
Silvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
Human Mutation
|
April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Journal of Inherited Metabolic Disease
|
January 18, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, et al.
Science Advances
|
April 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation
Robert Wang, Feng Wang, Nicole DeBruyne, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 12, 2018
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals"
Kai Lee Yap, Amy E Knight Johnson, David Fischer, et al.
Journal of Inherited Metabolic Disease
|
March 18, 2021
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
Hind Alsharhan, Miao He, Andrew C Edmondson, et al.
Journal of Inherited Metabolic Disease
|
June 27, 2020
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
Devon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.
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of 8