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Adeline Vanderver

Showing results (171-180 of 217) with videos related to

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American Journal of Human Genetics|May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticityRyan J Taft, Adeline Vanderver, Richard J Leventer, et al.
Annals of the Child Neurology Society|August 26, 2025
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite StudyEmma R Kotes, Sarah Woidill, Russell D'Aiello, et al.
Journal of Medical Genetics|August 22, 2020
De novo missense variants in <i>LMBRD2</i> are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresAlka Malhotra, Alban Ziegler, Li Shu, et al.
Annals of Neurology|May 10, 2016
Whole exome sequencing in patients with white matter abnormalitiesAdeline Vanderver, Cas Simons, Guy Helman, et al.
Annals of Neurology|April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter DisordersAdeline Vanderver, Geneviève Bernard, Guy Helman, et al.
Molecular Genetics and Metabolism|February 11, 2026
A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS)Anjana Sevagamoorthy, Francesco Gavazzi, Zarrin Tashnim, et al.
Neurogenetics|August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.
Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
Brain : a Journal of Neurology|July 15, 2023
Neurologic complications in herpes simplex encephalitis: clinical, immunological and genetic studiesThaís Armangué, Gemma Olivé-Cirera, Eugenia Martínez-Hernandez, et al.
Journal of Medical Genetics|July 15, 2016
The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial diseaseYi Shiau Ng, Charlotte L Alston, Daria Diodato, et al.
Pageof 22

Showing results (171-180 of 217) with videos related to

Sort By:
Pageof 22
American Journal of Human Genetics|May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticityRyan J Taft, Adeline Vanderver, Richard J Leventer, et al.
Annals of the Child Neurology Society|August 26, 2025
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite StudyEmma R Kotes, Sarah Woidill, Russell D'Aiello, et al.
Journal of Medical Genetics|August 22, 2020
De novo missense variants in <i>LMBRD2</i> are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresAlka Malhotra, Alban Ziegler, Li Shu, et al.
Annals of Neurology|May 10, 2016
Whole exome sequencing in patients with white matter abnormalitiesAdeline Vanderver, Cas Simons, Guy Helman, et al.
Annals of Neurology|April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter DisordersAdeline Vanderver, Geneviève Bernard, Guy Helman, et al.
Molecular Genetics and Metabolism|February 11, 2026
A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS)Anjana Sevagamoorthy, Francesco Gavazzi, Zarrin Tashnim, et al.
Neurogenetics|August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.
Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
Brain : a Journal of Neurology|July 15, 2023
Neurologic complications in herpes simplex encephalitis: clinical, immunological and genetic studiesThaís Armangué, Gemma Olivé-Cirera, Eugenia Martínez-Hernandez, et al.
Journal of Medical Genetics|July 15, 2016
The clinical, biochemical and genetic features associated with <i>RMND1</i>-related mitochondrial diseaseYi Shiau Ng, Charlotte L Alston, Daria Diodato, et al.
Pageof 22