Associated Papers
Inborn errors of the malate aspartate shuttle - Update on patients and cellular models.
Koch J et al.
Molecular Genetics and Metabolism, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed
AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease.
Pardo B et al.
International Journal of Molecular Sciences, 2022
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M et al.
Seizure, 2019
Recurrent PDGFRB mutations in unicentric Castleman disease.
Li Z et al.
Leukemia, 2019
30607019 (PubMed )
Supplement: 41375_2018_323_MOESM5_ESM.xls › Table_S2
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