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Matias Wagner

Showing results (171-180 of 188) with videos related to

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Journal of Medical Genetics|December 21, 2021
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disabilityAudrey Schalk, Margot A Cousin, Nikita R Dsouza, et al.
Hepatology (Baltimore, Md.)|November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate originDominic Lenz, Lea D Schlieben, Masaru Shimura, et al.
European Journal of Human Genetics : EJHG|June 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.
Nature Cardiovascular Research|April 23, 2025
Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathyNadine Spielmann, Gregor Miller, Tudor I Oprea, et al.
American Journal of Human Genetics|January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersIvana Lessel, Anja Baresic, Ivan K Chinn, et al.
Nature Cardiovascular Research|August 28, 2024
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathyNadine Spielmann, Gregor Miller, Tudor I Oprea, et al.
American Journal of Human Genetics|October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossElodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
The Lancet. Neurology|October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing studyMichael Zech, Robert Jech, Sylvia Boesch, et al.
American Journal of Human Genetics|January 29, 2021
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionJoery den Hoed, Elke de Boer, Norine Voisin, et al.
Science (New York, N.Y.)|September 19, 2024
Germline mutations in a G protein identify signaling cross-talk in T cellsHyoungjun Ham, Huie Jing, Ian T Lamborn, et al.
Pageof 19

Showing results (171-180 of 188) with videos related to

Sort By:
Pageof 19
Journal of Medical Genetics|December 21, 2021
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disabilityAudrey Schalk, Margot A Cousin, Nikita R Dsouza, et al.
Hepatology (Baltimore, Md.)|November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate originDominic Lenz, Lea D Schlieben, Masaru Shimura, et al.
European Journal of Human Genetics : EJHG|June 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.
Nature Cardiovascular Research|April 23, 2025
Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathyNadine Spielmann, Gregor Miller, Tudor I Oprea, et al.
American Journal of Human Genetics|January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersIvana Lessel, Anja Baresic, Ivan K Chinn, et al.
Nature Cardiovascular Research|August 28, 2024
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathyNadine Spielmann, Gregor Miller, Tudor I Oprea, et al.
American Journal of Human Genetics|October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossElodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
The Lancet. Neurology|October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing studyMichael Zech, Robert Jech, Sylvia Boesch, et al.
American Journal of Human Genetics|January 29, 2021
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionJoery den Hoed, Elke de Boer, Norine Voisin, et al.
Science (New York, N.Y.)|September 19, 2024
Germline mutations in a G protein identify signaling cross-talk in T cellsHyoungjun Ham, Huie Jing, Ian T Lamborn, et al.
Pageof 19