Associated Papers
Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.
Fazio A et al.
Genes, 2025
Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy.
Yiliyaer N et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant.
Ng AC et al.
Journal of Child Neurology, 2025
Unraveling the pathogenicity role of the novel compound heterozygous mutations of MED25 gene in a Chinese patient with BVSYS.
Zou L et al.
Frontiers in Genetics, 2025
Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing.
Duc NM et al.
Epilepsy Research, 2023
Structure of mammalian Mediator complex reveals Tail module architecture and interaction with a conserved core.
Zhao H et al.
Nature Communications, 2021
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Maini I et al.
Neurogenetics, 2021
Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.
Haynes D et al.
American Journal of Medical Genetics. Part A, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.
Nair P et al.
Molecular Syndromology, 2019
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].
Cohen L et al.
Harefuah, 2017
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Basel-Vanagaite L et al.
Human Genetics, 2015
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