Associated Papers
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
Jiang L et al.
Molecular Genetics & Genomic Medicine, 2023
[Prickle planar cell polarity protein 1 involved in the pathogenesis of skeletal class Ⅲ malocclusion].
Zhang CC et al.
Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 2023
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_3
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.
Lee CG et al.
Plos One, 2018
Deregulation of the planar cell polarity genes CELSR3 and FZD3 in Hirschsprung disease.
Su L et al.
Experimental and Molecular Pathology, 2016
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