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C Edmondson

Showing results (91-100 of 132) with videos related to

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Molecular Genetics and Metabolism|January 13, 2026
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkersRodrigo T Starosta, Miao He, Sara Gracie, et al.
Movement Disorders Clinical Practice|December 14, 2023
Huntington Study Group's Neuropsychology Working Group: Implementing Non-Motor Diagnostic CriteriaCiaran M Considine, M Agustina Rossetti, Victor A Del Bene, et al.
The Clinical Neuropsychologist|October 18, 2023
Huntington study group's neuropsychology working group position on best practice recommendations for the clinical neuropsychological evaluation of patients with Huntington diseaseCiaran M Considine, M Agustina Rossetti, Kendra Anderson, et al.
Plos Genetics|December 17, 2011
Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterolSumeet A Khetarpal, Andrew C Edmondson, Avanthi Raghavan, et al.
International Journal of Neonatal Screening|April 25, 2022
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in PennsylvaniaJessica R C Priestley, Laura A Adang, Sarah Drewes Williams, et al.
Molecular Genetics and Metabolism|March 23, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomesSanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, et al.
Frontiers in Genetics|February 4, 2012
Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol RegulationKai Wang, Andrew C Edmondson, Mingyao Li, et al.
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.
Pageof 14

Showing results (91-100 of 132) with videos related to

Sort By:
Pageof 14
Molecular Genetics and Metabolism|January 13, 2026
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkersRodrigo T Starosta, Miao He, Sara Gracie, et al.
Movement Disorders Clinical Practice|December 14, 2023
Huntington Study Group's Neuropsychology Working Group: Implementing Non-Motor Diagnostic CriteriaCiaran M Considine, M Agustina Rossetti, Victor A Del Bene, et al.
The Clinical Neuropsychologist|October 18, 2023
Huntington study group's neuropsychology working group position on best practice recommendations for the clinical neuropsychological evaluation of patients with Huntington diseaseCiaran M Considine, M Agustina Rossetti, Kendra Anderson, et al.
Plos Genetics|December 17, 2011
Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterolSumeet A Khetarpal, Andrew C Edmondson, Avanthi Raghavan, et al.
International Journal of Neonatal Screening|April 25, 2022
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in PennsylvaniaJessica R C Priestley, Laura A Adang, Sarah Drewes Williams, et al.
Molecular Genetics and Metabolism|March 23, 2025
Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomesSanne Verberkmoes, Gina L Mazza, Andrew C Edmondson, et al.
Frontiers in Genetics|February 4, 2012
Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol RegulationKai Wang, Andrew C Edmondson, Mingyao Li, et al.
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.
Pageof 14