Associated Papers
Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights.
Ghalamkari S et al.
American Journal of Medical Genetics. Part A, 2025
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J et al.
Brain : a Journal of Neurology, 2024
WDR45, one gene associated with multiple neurodevelopmental disorders.
Cong Y et al.
Autophagy, 2021
Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
Oates S et al.
Npj Genomic Medicine, 2018
Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.
Marques-da-Silva D et al.
Journal of Inherited Metabolic Disease, 2017
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