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Adeline Vanderver

Showing results (51-60 of 217) with videos related to

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Journal of Inherited Metabolic Disease|February 29, 2024
Nucleotide metabolism, leukodystrophies, and CNS pathologyFrancesco Gavazzi, Carlos Dominguez Gonzalez, Kaley Arnold, et al.
American Journal of Medical Genetics. Part A|February 25, 2026
Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With ImmunodeficiencyGonench Kilich, Tanaya Jadhav, Kelly Maurer, et al.
Journal of Human Immunity|May 13, 2026
Adult-onset STING-associated vasculopathyThomas R Riley, Jonathan J Kotzin, Debby J Park, et al.
American Journal of Medical Genetics. Part A|October 18, 2019
Brain white matter abnormalities associated with copy number variantsNitzan Vigdorovich, Liat Ben-Sira, Lubov Blumkin, et al.
Molecular Genetics and Metabolism Reports|June 27, 2017
Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairmentChristian J Hendriksz, Joseph Muenzer, Adeline Vanderver, et al.
Journal of Child Neurology|May 22, 2025
Experiences and Hope in Caregivers of Children With Aicardi Goutières SyndromeFrancesco Gavazzi, Ashley Martin, Anjana Sevagamoorthy, et al.
Neuropediatrics|January 13, 2022
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 VariantsMenno D Stellingwerff, Corinne Nulton, Guy Helman, et al.
Molecular Genetics and Metabolism|January 12, 2015
Consensus statement on preventive and symptomatic care of leukodystrophy patientsKeith Van Haren, Joshua L Bonkowsky, Genevieve Bernard, et al.
Neurology|November 20, 2015
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndromeRoberta La Piana, Carla Uggetti, Federico Roncarolo, et al.
Orphanet Journal of Rare Diseases|August 27, 2025
The impact of vanishing white matter on unaffected family membersRomy J van Voorst, Daphne H Schoenmakers, Irene van Beelen, et al.
Pageof 22

Showing results (51-60 of 217) with videos related to

Sort By:
Pageof 22
Journal of Inherited Metabolic Disease|February 29, 2024
Nucleotide metabolism, leukodystrophies, and CNS pathologyFrancesco Gavazzi, Carlos Dominguez Gonzalez, Kaley Arnold, et al.
American Journal of Medical Genetics. Part A|February 25, 2026
Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With ImmunodeficiencyGonench Kilich, Tanaya Jadhav, Kelly Maurer, et al.
Journal of Human Immunity|May 13, 2026
Adult-onset STING-associated vasculopathyThomas R Riley, Jonathan J Kotzin, Debby J Park, et al.
American Journal of Medical Genetics. Part A|October 18, 2019
Brain white matter abnormalities associated with copy number variantsNitzan Vigdorovich, Liat Ben-Sira, Lubov Blumkin, et al.
Molecular Genetics and Metabolism Reports|June 27, 2017
Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairmentChristian J Hendriksz, Joseph Muenzer, Adeline Vanderver, et al.
Journal of Child Neurology|May 22, 2025
Experiences and Hope in Caregivers of Children With Aicardi Goutières SyndromeFrancesco Gavazzi, Ashley Martin, Anjana Sevagamoorthy, et al.
Neuropediatrics|January 13, 2022
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 VariantsMenno D Stellingwerff, Corinne Nulton, Guy Helman, et al.
Molecular Genetics and Metabolism|January 12, 2015
Consensus statement on preventive and symptomatic care of leukodystrophy patientsKeith Van Haren, Joshua L Bonkowsky, Genevieve Bernard, et al.
Neurology|November 20, 2015
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndromeRoberta La Piana, Carla Uggetti, Federico Roncarolo, et al.
Orphanet Journal of Rare Diseases|August 27, 2025
The impact of vanishing white matter on unaffected family membersRomy J van Voorst, Daphne H Schoenmakers, Irene van Beelen, et al.
Pageof 22