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Medrxiv : the Preprint Server for Health Sciences|June 5, 2026
Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophiesShivaram Karandikar, Anjana Sevagamoorthy, Dabriel Zimmerman, 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.
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.
Medrxiv : the Preprint Server for Health Sciences|August 12, 2025
BLOC1S1 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.
Molecular Genetics and Metabolism|February 14, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophyFrancesco Gavazzi, Brittany Charsar, Eline Hamilton, 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.
Journal of Personalized Medicine|December 29, 2022
The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population HealthNephi A Walton, Brent Hafen, Sara Graceffo, et al.
NPJ Genomic Medicine|March 23, 2025
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unitSabrina Malone Jenkins, Rachel N Palmquist, Barry Moore, et al.
The Journal of Clinical Endocrinology and Metabolism|October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.
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