Associated Papers
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
Chen YP et al.
Journal of Parkinson's Disease, 2021
34250953 (PubMed )
Supplement: sj-xlsx-2-pkn-10.3233_jpd-212658.xlsx › Sheet1
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora NL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.
Mahdieh N et al.
Clinical Neurology and Neurosurgery, 2018
Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.
Zhang W et al.
Metabolic Brain Disease, 2016
[Clinical and molecular characteristics of a child with juvenile Sandhoff disease].
Huang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
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