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Meret Wegler

Showing results (1-10 of 9) with videos related to

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Clinical Genetics|January 7, 2021
Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6Meret Wegler, Christian Roth, Eckehard Schumann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 5, 2022
De novo variants in the PABP domain of PABPC1 lead to developmental delayMeret Wegler, Xiangbin Jia, Marielle Alders, et al.
American Journal of Medical Genetics. Part A|March 13, 2026
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia SyndromeAya Abu-El-Haija, Allan Bayat, Hanifenur Mancılar, et al.
Human Genetics|March 25, 2024
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephalyCharlotte Herbst, Viktoria Bothe, Meret Wegler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 30, 2024
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivityMarine Tessarech, Gaëlle Friocourt, Florent Marguet, et al.
American Journal of Human Genetics|March 31, 2022
De novo variants in ATP2B1 lead to neurodevelopmental delayMeer Jacob Rahimi, Nicole Urban, Meret Wegler, et al.
American Journal of Human Genetics|December 25, 2024
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disabilityPascale Sabeh, Samantha A Dumas, Claudia Maios, 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 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Clinical Genetics|January 7, 2021
Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6Meret Wegler, Christian Roth, Eckehard Schumann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 5, 2022
De novo variants in the PABP domain of PABPC1 lead to developmental delayMeret Wegler, Xiangbin Jia, Marielle Alders, et al.
American Journal of Medical Genetics. Part A|March 13, 2026
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia SyndromeAya Abu-El-Haija, Allan Bayat, Hanifenur Mancılar, et al.
Human Genetics|March 25, 2024
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephalyCharlotte Herbst, Viktoria Bothe, Meret Wegler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 30, 2024
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivityMarine Tessarech, Gaëlle Friocourt, Florent Marguet, et al.
American Journal of Human Genetics|March 31, 2022
De novo variants in ATP2B1 lead to neurodevelopmental delayMeer Jacob Rahimi, Nicole Urban, Meret Wegler, et al.
American Journal of Human Genetics|December 25, 2024
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disabilityPascale Sabeh, Samantha A Dumas, Claudia Maios, 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 1