Page last updated: 2024-08-26

peptide elongation factor 2 and Deficiency, Mental

peptide elongation factor 2 has been researched along with Deficiency, Mental in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's2 (100.00)2.80

Authors

AuthorsStudies
Cotrina-Vinagre, FJ; de Aragón, AM; de Las Heras, RS; de Vries, BBA; Dinman, JD; Martínez-Azorín, F; Nabais Sá, MJ; Olson, AN; Quijada-Fraile, P; Rodríguez-García, ME; Sánchez-Calvin, MT1
Alves, CAP; Bird, LM; Cook, EB; Guo, R; Izumi, K; Rippert, AL1

Other Studies

2 other study(ies) available for peptide elongation factor 2 and Deficiency, Mental

ArticleYear
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
    Journal of human genetics, 2023, Volume: 68, Issue:8

    Topics: Humans; Intellectual Disability; Microcephaly; Mutation; Peptide Elongation Factor 2; Phenotype

2023
Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases.
    American journal of medical genetics. Part A, 2023, Volume: 191, Issue:10

    Topics: Adult; Autism Spectrum Disorder; Child; Child, Preschool; Female; Genotype; Humans; Intellectual Disability; Language Development Disorders; Male; Neurodevelopmental Disorders; Peptide Elongation Factor 2; Phenotype

2023