Associated Papers
Adult-Onset EIF2B-Pathies: A Clinical, Imaging and Genetic Profiling with Literature Review.
Thuppanattumadam Ananthasubramanian S et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024
Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders.
Dong L et al.
Italian Journal of Pediatrics, 2023
Adult-onset vanishing white matter in a patient with EIF2B3 variants misdiagnosed as multiple sclerosis.
Xu L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.
Turkyilmaz A et al.
Journal of Assisted Reproduction and Genetics, 2022
Identification of potential causal variants for premature ovarian failure by whole exome sequencing.
Jin H et al.
Bmc Medical Genomics, 2020
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