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Sacha Weber

Showing results (11-20 of 18) with videos related to

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American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Heart Rhythm|August 12, 2024
Systematic analysis of SCN5A variants associated with inherited cardiac diseasesAlexis Hermida, Guillaume Jedraszak, Flavie Ader, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 1, 2019
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individualsHenri Margot, Guilaine Boursier, Claire Duflos, et al.
Epilepsia|December 23, 2023
Developmental epileptic encephalopathy in DLG4-related synaptopathyBenedetta Kassabian, Amanda M Levy, Elena Gardella, et al.
Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.
Nature Communications|November 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
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Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Heart Rhythm|August 12, 2024
Systematic analysis of SCN5A variants associated with inherited cardiac diseasesAlexis Hermida, Guillaume Jedraszak, Flavie Ader, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 1, 2019
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individualsHenri Margot, Guilaine Boursier, Claire Duflos, et al.
Epilepsia|December 23, 2023
Developmental epileptic encephalopathy in DLG4-related synaptopathyBenedetta Kassabian, Amanda M Levy, Elena Gardella, et al.
Science Advances|March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceSarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.
Nature Communications|November 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
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