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Yanick J Crow

Showing results (111-120 of 234) with videos related to

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Neurology|November 20, 2015
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndromeRoberta La Piana, Carla Uggetti, Federico Roncarolo, et al.
American Journal of Human Genetics|March 9, 2010
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54Peter Green, Matthew Wiseman, Yanick J Crow, 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.
Human Mutation|March 3, 2015
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain CalcificationRoberta R Lemos, Eliana M Ramos, Andrea Legati, et al.
Stem Cell Research|December 6, 2025
Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139)Lisa Zerad, Blaise Didry-Barca, Céline Banal, et al.
The New England Journal of Medicine|November 30, 2020
JAK Inhibition in the Aicardi-Goutières SyndromeBénédicte Neven, Buthaina Al Adba, Marie Hully, et al.
Pediatric Neurology|September 10, 2020
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With BevacizumabMarina Martínez-Matilla, Jesús José Ferre-Fernández, María José Aparisi, et al.
Frontiers in Immunology|November 2, 2020
Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the LiteratureFrederik Staels, Albrecht Betrains, Peter Doubel, et al.
American Journal of Human Genetics|May 4, 2020
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and CystsAndrew P Badrock, Carolina Uggenti, Ludivine Wacheul, et al.
Journal of Clinical Immunology|December 22, 2018
DDX58 and Classic Singleton-Merten SyndromeCarlos R Ferreira, Yanick J Crow, William A Gahl, et al.
Pageof 24

Showing results (111-120 of 234) with videos related to

Sort By:
Pageof 24
Neurology|November 20, 2015
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndromeRoberta La Piana, Carla Uggetti, Federico Roncarolo, et al.
American Journal of Human Genetics|March 9, 2010
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54Peter Green, Matthew Wiseman, Yanick J Crow, 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.
Human Mutation|March 3, 2015
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain CalcificationRoberta R Lemos, Eliana M Ramos, Andrea Legati, et al.
Stem Cell Research|December 6, 2025
Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139)Lisa Zerad, Blaise Didry-Barca, Céline Banal, et al.
The New England Journal of Medicine|November 30, 2020
JAK Inhibition in the Aicardi-Goutières SyndromeBénédicte Neven, Buthaina Al Adba, Marie Hully, et al.
Pediatric Neurology|September 10, 2020
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With BevacizumabMarina Martínez-Matilla, Jesús José Ferre-Fernández, María José Aparisi, et al.
Frontiers in Immunology|November 2, 2020
Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the LiteratureFrederik Staels, Albrecht Betrains, Peter Doubel, et al.
American Journal of Human Genetics|May 4, 2020
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and CystsAndrew P Badrock, Carolina Uggenti, Ludivine Wacheul, et al.
Journal of Clinical Immunology|December 22, 2018
DDX58 and Classic Singleton-Merten SyndromeCarlos R Ferreira, Yanick J Crow, William A Gahl, et al.
Pageof 24