Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study.
Agarwala P et al.
Brain Communications, 2023
EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report.
Filareto I et al.
Italian Journal of Pediatrics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention.
Liu H et al.
Journal of Ovarian Research, 2020
Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.
Wei C et al.
Bmc Neurology, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _B__Y2H-SI_disease_mut
Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up.
Zhang H et al.
Plos One, 2015
Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.
Leng X et al.
Journal of Human Genetics, 2011
[Clinical characteristics of cases with leukoencephalopathy with vanishing white matter].
Wu Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
[Clinical observation and long-term follow-up of benign infantile epilepsy].
Liu XY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2003
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