Associated Papers
Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies.
Alagha P et al.
Archives of Iranian Medicine, 2025
Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis.
Fattahi Z et al.
Clinical Genetics, 2025
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