Associated Papers
Pontocerebellar Hypoplasia and Periventricular Leukomalacia Associated With p.Phe262Val Homozygous Variant in TTC1 Gene: A Report of 4 Cases.
Sarıkaya Uzan G et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Karaca E et al.
Neuron, 2015
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