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Benita Menden

Showing results (1-10 of 8) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|May 19, 2022
Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated DystoniaBenita Menden, Alexander Gutschalk, Gilbert Wunderlich, et al.
Journal of Clinical Medicine|August 12, 2022
Variant in the <i>PLCG2</i> Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature ReviewTatjana Welzel, Lea Oefelein, Ursula Holzer, et al.
NPJ Genomic Medicine|March 15, 2024
Genomes in clinical careOlaf Riess, Marc Sturm, Benita Menden, et al.
Breast (Edinburgh, Scotland)|May 22, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefitsDennis Witt, Marc Sturm, Antje Stäbler, et al.
Prenatal Diagnosis|May 16, 2022
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomaliesAndreas Dufke, Markus Hoopmann, Stephan Waldmüller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Movement Disorders : Official Journal of the Movement Disorder Society|May 19, 2022
Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated DystoniaBenita Menden, Alexander Gutschalk, Gilbert Wunderlich, et al.
Journal of Clinical Medicine|August 12, 2022
Variant in the <i>PLCG2</i> Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature ReviewTatjana Welzel, Lea Oefelein, Ursula Holzer, et al.
NPJ Genomic Medicine|March 15, 2024
Genomes in clinical careOlaf Riess, Marc Sturm, Benita Menden, et al.
Breast (Edinburgh, Scotland)|May 22, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefitsDennis Witt, Marc Sturm, Antje Stäbler, et al.
Prenatal Diagnosis|May 16, 2022
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomaliesAndreas Dufke, Markus Hoopmann, Stephan Waldmüller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.
Pageof 1