Associated Papers
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 › Diagnosed
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska E et al.
Neurogenetics, 2019
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Günther S et al.
Human Mutation, 2016
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