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Adeline Vanderver

Showing results (191-200 of 217) with videos related to

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Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
Molecular Genetics and Metabolism|September 3, 2017
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophiesLaura A Adang, Omar Sherbini, Laura Ball, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain MalformationLong Guo, Débora Romeo Bertola, Asako Takanohashi, et al.
Medrxiv : the Preprint Server for Health Sciences|August 12, 2025
<i>BLOC1S1</i> variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, et al.
American Journal of Human Genetics|March 26, 2026
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos A Dominguez Gonzalez, Chad D Williamson, et al.
Neurology|November 13, 2025
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White MatterRomy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky, et al.
Molecular Genetics and Metabolism|July 4, 2024
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophyLaura Ann Adang, Samuel Groeschel, Chloe Grzyb, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetranceDaniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
HGG Advances|April 8, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare diseaseAlka Malhotra, Erin Thorpe, Alison J Coffey, et al.
Pageof 22

Showing results (191-200 of 217) with videos related to

Sort By:
Pageof 22
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
Molecular Genetics and Metabolism|September 3, 2017
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophiesLaura A Adang, Omar Sherbini, Laura Ball, et al.
American Journal of Human Genetics|April 16, 2019
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain MalformationLong Guo, Débora Romeo Bertola, Asako Takanohashi, et al.
Medrxiv : the Preprint Server for Health Sciences|August 12, 2025
<i>BLOC1S1</i> variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, et al.
American Journal of Human Genetics|March 26, 2026
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos A Dominguez Gonzalez, Chad D Williamson, et al.
Neurology|November 13, 2025
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White MatterRomy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky, et al.
Molecular Genetics and Metabolism|July 4, 2024
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophyLaura Ann Adang, Samuel Groeschel, Chloe Grzyb, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetranceDaniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
HGG Advances|April 8, 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare diseaseAlka Malhotra, Erin Thorpe, Alison J Coffey, et al.
Pageof 22