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Mandy Radefeldt

Showing results (11-20 of 21) with videos related to

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Diagnostics (Basel, Switzerland)|July 12, 2020
Rapid Large-Scale COVID-19 Testing During ShortagesChristian Beetz, Volha Skrahina, Toni M Förster, et al.
Human Genetics|September 1, 2023
A founder DBR1 variant causes a lethal form of congenital ichthyosisHanan E Shamseldin, Mukunth Sadagopan, Javier Martini, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 26, 2024
Genetic and Epidemiological Insights into RAB32-Linked Parkinson's DiseaseMandy Radefeldt, Sabrina Lemke, Kridsadakorn Chaichoompu, et al.
Medrxiv : the Preprint Server for Health Sciences|June 26, 2025
<i>RAB32</i> -linked Parkinson's disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteriaTeresa Kleinz, Francesco Cavallieri, Max Borsche, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 17, 2025
RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe CriteriaTeresa Kleinz, Francesco Cavallieri, Max Borsche, et al.
Medrxiv : the Preprint Server for Health Sciences|March 27, 2026
The <i>GBA1</i> p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-AnalysisLeah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 23, 2026
The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta-AnalysisLeah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
Journal of Medical Genetics|December 25, 2021
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> geneAida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, et al.
Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in <i>GBA1</i>Pilar Álvarez Jerez, Peter A Wild Crea, Daniel M Ramos, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 7, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site VariantsAna Westenberger, Edgard Verdura, Mandy Radefeldt, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Diagnostics (Basel, Switzerland)|July 12, 2020
Rapid Large-Scale COVID-19 Testing During ShortagesChristian Beetz, Volha Skrahina, Toni M Förster, et al.
Human Genetics|September 1, 2023
A founder DBR1 variant causes a lethal form of congenital ichthyosisHanan E Shamseldin, Mukunth Sadagopan, Javier Martini, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 26, 2024
Genetic and Epidemiological Insights into RAB32-Linked Parkinson's DiseaseMandy Radefeldt, Sabrina Lemke, Kridsadakorn Chaichoompu, et al.
Medrxiv : the Preprint Server for Health Sciences|June 26, 2025
<i>RAB32</i> -linked Parkinson's disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteriaTeresa Kleinz, Francesco Cavallieri, Max Borsche, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 17, 2025
RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe CriteriaTeresa Kleinz, Francesco Cavallieri, Max Borsche, et al.
Medrxiv : the Preprint Server for Health Sciences|March 27, 2026
The <i>GBA1</i> p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-AnalysisLeah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 23, 2026
The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta-AnalysisLeah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
Journal of Medical Genetics|December 25, 2021
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the <i>AGR2</i> geneAida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, et al.
Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in <i>GBA1</i>Pilar Álvarez Jerez, Peter A Wild Crea, Daniel M Ramos, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 7, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site VariantsAna Westenberger, Edgard Verdura, Mandy Radefeldt, et al.
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