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Alban Ziegler

Showing results (71-80 of 83) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2019
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrumEnrico D H Konrad, Niels Nardini, Almuth Caliebe, et al.
Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, 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.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Molecular Genetics & Genomic Medicine|January 29, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disordersValentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, et al.
European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, 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.
Pageof 9

Showing results (71-80 of 83) with videos related to

Sort By:
Pageof 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2019
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrumEnrico D H Konrad, Niels Nardini, Almuth Caliebe, et al.
Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, 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.
Annals of Neurology|September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Molecular Genetics & Genomic Medicine|January 29, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disordersValentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, et al.
European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, 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.
Pageof 9