Associated Papers
Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families.
Farazi Fard MA et al.
Journal of Human Genetics, 2025
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Valence S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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