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American Journal of Medical Genetics. Part A|December 31, 2013
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutationsAdeline Vanderver, Davide Tonduti, Ilana Kahn, et al.
Pediatric Neurology|June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyAmytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
Molecular Genetics and Metabolism|June 18, 2026
Neuroradiological patterns and prognostic implications in type I Alexander diseaseYlenia Vaia, Filippo Arrigoni, Liat Ben Sira, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2025
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and managementDiana Tambala, Rachel Vassar, John Snow, et al.
Molecular Genetics and Metabolism|March 23, 2026
Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparisonGemma Marinella, Ylenia Vaia, Davide Politano, et al.
HGG Advances|July 20, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disordersMackenzie A Michell-Robinson, Stefanie Perrier, Samuel Gauthier, et al.
Molecular Genetics and Metabolism|February 11, 2026
A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS)Anjana Sevagamoorthy, Francesco Gavazzi, Zarrin Tashnim, et al.
Annals of Clinical and Translational Neurology|December 10, 2019
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrumMarisa I Mendes, Lydia M C Green, Enrico Bertini, et al.
Annals of Clinical and Translational Neurology|July 1, 2015
Altered PLP1 splicing causes hypomyelination of early myelinating structuresSietske H Kevelam, Jennifer R Taube, Rosalina M L van Spaendonk, et al.
American Journal of Human Genetics|March 21, 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, et al.
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