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Gert Matthijs

Showing results (191-200 of 199) with videos related to

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American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
Nature Reviews. Genetics|September 15, 2019
Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022Gary Saunders, Michael Baudis, Regina Becker, et al.
Nature Reviews. Genetics|August 29, 2019
Leveraging European infrastructures to access 1 million human genomes by 2022Gary Saunders, Michael Baudis, Regina Becker, et al.
American Journal of Human Genetics|May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic DiseasesKym M Boycott, Ana Rath, Jessica X Chong, et al.
American Journal of Human Genetics|February 3, 2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationJos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, et al.
Science Translational Medicine|June 5, 2015
Global implementation of genomic medicine: We are not aloneTeri A Manolio, Marc Abramowicz, Fahd Al-Mulla, et al.
The New England Journal of Medicine|February 7, 2014
Multiple phenotypes in phosphoglucomutase 1 deficiencyLaura C Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, et al.
Human Mutation|March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.
Pageof 20

Showing results (191-200 of 199) with videos related to

Sort By:
Pageof 20
You have reached the last page of results.This site can display upto 199 results.
American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
Nature Reviews. Genetics|September 15, 2019
Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022Gary Saunders, Michael Baudis, Regina Becker, et al.
Nature Reviews. Genetics|August 29, 2019
Leveraging European infrastructures to access 1 million human genomes by 2022Gary Saunders, Michael Baudis, Regina Becker, et al.
American Journal of Human Genetics|May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic DiseasesKym M Boycott, Ana Rath, Jessica X Chong, et al.
American Journal of Human Genetics|February 3, 2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationJos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, et al.
Science Translational Medicine|June 5, 2015
Global implementation of genomic medicine: We are not aloneTeri A Manolio, Marc Abramowicz, Fahd Al-Mulla, et al.
The New England Journal of Medicine|February 7, 2014
Multiple phenotypes in phosphoglucomutase 1 deficiencyLaura C Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, et al.
Human Mutation|March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.
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