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Neurology
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November 20, 2015
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome
Roberta 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 c20orf54
Peter 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 Description
Guy 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 Calcification
Roberta 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 Syndrome
Bénédicte Neven, Buthaina Al Adba, Marie Hully, et al.
Pediatric Neurology
|
September 10, 2020
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab
Marina 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 Literature
Frederik 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 Cysts
Andrew P Badrock, Carolina Uggenti, Ludivine Wacheul, et al.
Journal of Clinical Immunology
|
December 22, 2018
DDX58 and Classic Singleton-Merten Syndrome
Carlos R Ferreira, Yanick J Crow, William A Gahl, et al.
Page
of 24
Search research articles
Search
Showing results (111-120 of 234) with videos related to
Sort By:
Page
of 24
Neurology
|
November 20, 2015
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome
Roberta 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 c20orf54
Peter 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 Description
Guy 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 Calcification
Roberta 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 Syndrome
Bénédicte Neven, Buthaina Al Adba, Marie Hully, et al.
Pediatric Neurology
|
September 10, 2020
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab
Marina 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 Literature
Frederik 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 Cysts
Andrew P Badrock, Carolina Uggenti, Ludivine Wacheul, et al.
Journal of Clinical Immunology
|
December 22, 2018
DDX58 and Classic Singleton-Merten Syndrome
Carlos R Ferreira, Yanick J Crow, William A Gahl, et al.
Page
of 24