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Adeline Vanderver

Showing results (61-70 of 217) with videos related to

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Neuropediatrics|August 27, 2016
Update on Leukodystrophies: A Historical Perspective and Adapted DefinitionSietske H Kevelam, Marjan E Steenweg, Siddharth Srivastava, et al.
Pediatric Blood & Cancer|September 7, 2021
Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndromeFrancesco Gavazzi, Jamie L Fraser, Miriam Bloom, et al.
Stem Cell Research|September 7, 2022
Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutationsKaiyuan Wu, Asako Takanohashi, Sarah Woidill, et al.
Journal of Child Neurology|September 29, 2020
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological DescriptionGuy Helman, Angela N Viaene, Asako Takanohashi, et al.
The Journal of Biological Chemistry|March 23, 2019
Leukodystrophy-associated <i>POLR3A</i> mutations down-regulate the RNA polymerase III transcript and important regulatory RNA <i>BC200</i>Karine Choquet, Diane Forget, Elisabeth Meloche, et al.
JCI Insight|June 17, 2024
IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathiesLaura A Adang, Russell D'Aiello, Asako Takanohashi, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategiesJamie L Fraser, Adeline Vanderver, Sandra Yang, et al.
Neurology. Genetics|October 7, 2024
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and AdrenomyeloneuropathyAlexandra B Kornbluh, Aaron Baldwin, Ali Fatemi, et al.
Molecular Genetics and Metabolism|December 31, 2013
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like diseaseLeo Gotoh, Ken Inoue, Guy Helman, et al.
Molecular Genetics and Metabolism|October 27, 2016
Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398]Leo Gotoh, Ken Inoue, Guy Helman, et al.
Pageof 22

Showing results (61-70 of 217) with videos related to

Sort By:
Pageof 22
Neuropediatrics|August 27, 2016
Update on Leukodystrophies: A Historical Perspective and Adapted DefinitionSietske H Kevelam, Marjan E Steenweg, Siddharth Srivastava, et al.
Pediatric Blood & Cancer|September 7, 2021
Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndromeFrancesco Gavazzi, Jamie L Fraser, Miriam Bloom, et al.
Stem Cell Research|September 7, 2022
Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutationsKaiyuan Wu, Asako Takanohashi, Sarah Woidill, et al.
Journal of Child Neurology|September 29, 2020
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological DescriptionGuy Helman, Angela N Viaene, Asako Takanohashi, et al.
The Journal of Biological Chemistry|March 23, 2019
Leukodystrophy-associated <i>POLR3A</i> mutations down-regulate the RNA polymerase III transcript and important regulatory RNA <i>BC200</i>Karine Choquet, Diane Forget, Elisabeth Meloche, et al.
JCI Insight|June 17, 2024
IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathiesLaura A Adang, Russell D'Aiello, Asako Takanohashi, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategiesJamie L Fraser, Adeline Vanderver, Sandra Yang, et al.
Neurology. Genetics|October 7, 2024
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and AdrenomyeloneuropathyAlexandra B Kornbluh, Aaron Baldwin, Ali Fatemi, et al.
Molecular Genetics and Metabolism|December 31, 2013
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like diseaseLeo Gotoh, Ken Inoue, Guy Helman, et al.
Molecular Genetics and Metabolism|October 27, 2016
Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398]Leo Gotoh, Ken Inoue, Guy Helman, et al.
Pageof 22