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Matias Wagner

Showing results (161-170 of 188) with videos related to

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The Journal of Allergy and Clinical Immunology|April 19, 2021
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiencyStefano Vavassori, Janet Chou, Laura Eva Faletti, et al.
American Journal of Human Genetics|January 5, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2021
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
American Journal of Human Genetics|March 20, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
American Journal of Human Genetics|May 9, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
Brain : a Journal of Neurology|February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystoniaMichael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Nature Communications|May 8, 2021
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorderSukhleen Kour, Deepa S Rajan, Tyler R Fortuna, et al.
Pageof 19

Showing results (161-170 of 188) with videos related to

Sort By:
Pageof 19
The Journal of Allergy and Clinical Immunology|April 19, 2021
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiencyStefano Vavassori, Janet Chou, Laura Eva Faletti, et al.
American Journal of Human Genetics|January 5, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2021
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
American Journal of Human Genetics|March 20, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
American Journal of Human Genetics|May 9, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2020
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorderTheresa Brunet, Kirsty McWalter, Katharina Mayerhanser, et al.
Brain : a Journal of Neurology|February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystoniaMichael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Nature Communications|May 8, 2021
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorderSukhleen Kour, Deepa S Rajan, Tyler R Fortuna, et al.
Pageof 19