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Showing results (41-50 of 48) with videos related to

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Human Molecular Genetics|November 9, 2023
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variantsJames P Allen, Kathryn B Garber, Riley Perszyk, et al.
Science Advances|February 1, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variationDavid B Beck, Mohammed A Basar, Anthony J Asmar, et al.
American Journal of Human Genetics|June 25, 2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVASHaloom Rafehi, David J Szmulewicz, Mark F Bennett, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, et al.
American Journal of Human Genetics|July 22, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial DysmorphismMaria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, et al.
Molecular Genetics & Genomic Medicine|September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanismsMegan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
JAMA Neurology|October 31, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical PracticeDianalee McKnight, Ana Morales, Kathryn E Hatchell, et al.
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Showing results (41-50 of 48) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 48 results.
Human Molecular Genetics|November 9, 2023
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variantsJames P Allen, Kathryn B Garber, Riley Perszyk, et al.
Science Advances|February 1, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variationDavid B Beck, Mohammed A Basar, Anthony J Asmar, et al.
American Journal of Human Genetics|June 25, 2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVASHaloom Rafehi, David J Szmulewicz, Mark F Bennett, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, et al.
American Journal of Human Genetics|July 22, 2020
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial DysmorphismMaria J Guillen Sacoto, Iva A Tchasovnikarova, Erin Torti, et al.
Molecular Genetics & Genomic Medicine|September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanismsMegan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
JAMA Neurology|October 31, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical PracticeDianalee McKnight, Ana Morales, Kathryn E Hatchell, et al.
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