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Andrew C Edmondson

Showing results (61-70 of 73) with videos related to

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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.
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.
Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Cell Metabolism|August 11, 2016
Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and RodentsSumeet A Khetarpal, Katrine T Schjoldager, Christina Christoffersen, et al.
Brain : a Journal of Neurology|April 16, 2020
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of functionMonica Zilmer, Andrew C Edmondson, Sumeet A Khetarpal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2022
Expanding the phenotypic spectrum of ARCN1-related syndromeAlyssa L Ritter, Jessica Gold, Hiroshi Hayashi, et al.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 familiesCamille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
Brain : a Journal of Neurology|March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.
Plos One|November 1, 2008
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studiesBrendan J Keating, Sam Tischfield, Sarah S Murray, et al.
Pageof 8

Showing results (61-70 of 73) with videos related to

Sort By:
Pageof 8
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.
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.
Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Cell Metabolism|August 11, 2016
Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and RodentsSumeet A Khetarpal, Katrine T Schjoldager, Christina Christoffersen, et al.
Brain : a Journal of Neurology|April 16, 2020
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of functionMonica Zilmer, Andrew C Edmondson, Sumeet A Khetarpal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2022
Expanding the phenotypic spectrum of ARCN1-related syndromeAlyssa L Ritter, Jessica Gold, Hiroshi Hayashi, et al.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
PIGG variant pathogenicity assessment reveals characteristic features within 19 familiesCamille Tremblay-Laganière, Reza Maroofian, Thi Tuyet Mai Nguyen, et al.
Brain : a Journal of Neurology|March 8, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disordersJai Sidpra, Sniya Sudhakar, Asthik Biswas, et al.
Plos One|November 1, 2008
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studiesBrendan J Keating, Sam Tischfield, Sarah S Murray, et al.
Pageof 8