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C Edmondson

Showing results (111-120 of 132) with videos related to

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American Journal of Human Genetics|April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDGSilvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
Human Mutation|April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDGSander 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 associationHana 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 interpretationRobert 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 phenotypesHind 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 literatureDevon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individualsKai Lee Yap, Amy E Knight Johnson, David Fischer, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|October 12, 2021
The feasibility of home monitoring of young people with cystic fibrosis: Results from CLIMB-CFC Edmondson, N Westrupp, P Seddon, et al.
American Journal of Human Genetics|June 18, 2021
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylationDaniel L Polla, Andrew C Edmondson, Sandrine Duvet, et al.
Pageof 14

Showing results (111-120 of 132) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDGSilvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
Human Mutation|April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDGSander 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 associationHana 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 interpretationRobert 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 phenotypesHind 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 literatureDevon L Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individualsKai Lee Yap, Amy E Knight Johnson, David Fischer, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|October 12, 2021
The feasibility of home monitoring of young people with cystic fibrosis: Results from CLIMB-CFC Edmondson, N Westrupp, P Seddon, et al.
American Journal of Human Genetics|June 18, 2021
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylationDaniel L Polla, Andrew C Edmondson, Sandrine Duvet, et al.
Pageof 14