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[Two novel RUNX2 gene mutations in two Chinese families with cleidocranial dysplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics Apr, 2010 | Pubmed ID: 20376792
The correlation between AGT gene polymorphism and neonatal hypoxic-ischemic encephalopathy (HIE).
European review for medical and pharmacological sciences Mar, 2019 | Pubmed ID: 30915766
[Clinical and genetic analysis of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics Nov, 2020 | Pubmed ID: 33179238
[Compound heterozygous NDUFS1 variants identified in a Chinese pedigree affected with mitochondrial respiratory chain complex I deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics Mar, 2021 | Pubmed ID: 33751534
The GluN2B-Trp373 NMDA Receptor Variant is Associated with Autism-, Epilepsy-Related Phenotypes and Reduces NMDA Receptor Currents in Rats.
Neurochemical research Jun, 2022 | Pubmed ID: 35181828
Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability.
European journal of medical genetics Sep, 2022 | Pubmed ID: 35793769
[Clinical characteristics and genetic variant analysis of a child with Snijders Blok-Campeau syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics Apr, 2023 | Pubmed ID: 36972932
Children’s Hospital Affiliated with Zhengzhou University
Rui Qiao1,
Ayipaxiaguli Kasimu2,
Danmei Chen2,
Chao Gao3,
Bing Li2
1, Yunnan University of Traditional Chinese Medicine,
2Department of Traditional Chinese Medicine, Jinshan Hospital of Fudan University, Fudan University,
3, Children’s Hospital Affiliated with Zhengzhou University
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