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Neurology. Clinical Practice|June 30, 2025
West Nile Virus Neuroinvasive Disease in Patients Treated With Anti-CD20 TherapiesRumyar V Ardakani, Paul Daniel Crane, Daniel M Pastula, et al.
Journal of Inherited Metabolic Disease|June 18, 2022
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelinesDaniah Albokhari, Bobby G Ng, Alis Guberinic, et al.
Nature Chemical Biology|January 15, 2020
Molecular basis for fibroblast growth factor 23 O-glycosylation by GalNAc-T3Matilde de Las Rivas, Earnest James Paul Daniel, Yoshiki Narimatsu, et al.
Genome Biology|December 9, 2023
Pediatric glioma histone H3.3 K27M/G34R mutations drive abnormalities in PML nuclear bodiesHsiao P J Voon, Linda Hii, Andrew Garvie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2013
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factorsPaul Daniel Brady, Barbara Delle Chiaie, Gabrielle Christenhusz, et al.
Journal of Inherited Metabolic Disease|February 14, 2021
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDGHind Alsharhan, Bobby G Ng, Earnest James Paul Daniel, et al.
Journal of Inherited Metabolic Disease|January 18, 2023
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic associationHana Alharbi, Earnest James Paul Daniel, Jenny Thies, et al.
Frontiers in Genetics|October 18, 2021
Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex AlleleCarlos Alberto González-Domínguez, Moisés O Fiesco-Roa, Samuel Gómez-Carmona, et al.
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