Associated Papers
Genetic and imaging features of CADASIL patients with acute ischemic stroke.
Park JY et al.
Scientific Reports, 2025
40379656 (PubMed )
Supplement: 41598_2025_220_MOESM1_ESM.docx
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.
Li S et al.
Frontiers in Genetics, 2020
Familial cases and male cases with MECP2 mutations.
Zhang Q et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017
[Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].
Li MR et al.
Zhonghua Yi Xue Za Zhi, 2009
[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome].
Li MR et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
Li MR et al.
Journal of Human Genetics, 2007
[MECP2 gene mutations in twenty-six cases with atypical Rett syndrome].
Li MR et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006
[Clinical feature of Rett syndrome and MeCP2 genotype/phenotype correlation analysis].
Bao XH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004
Preserved speech variants of the Rett syndrome: molecular and clinical analysis.
Zappella M et al.
American Journal of Medical Genetics, 2001
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