Associated Papers
Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study.
Qiao Y et al.
Genes & Diseases, 2025
40212794 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China.
Sun W et al.
Translational Pediatrics, 2023
[Genetic analysis and treatment for an infant with cerebral creatine deficiency syndrome type 2].
Sun W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
[Advances in studies on cerebral creatine deficiency syndrome].
Sun WH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
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