Associated Papers
Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review.
Zhu Y et al.
Frontiers in Medicine, 2026
Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.
Silver G et al.
Genes, 2021
34440401 (PubMed )
Supplement: genes-12-01227-s001.zip › genes-1234092-supplementary.pdf
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.
Mayo S et al.
International Journal of Molecular Sciences, 2021
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.
Bahl S et al.
Orphanet Journal of Rare Diseases, 2020
33267903 (PubMed )
Supplement: 13023_2020_1617_MOESM1_ESM.docx
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