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Proceedings of the National Academy of Sciences of the United States of America|June 30, 2026
Disruption of dynactin complex function in intellectual disabilityYuxiang Pan, Huijuan Li, Mingchun Liao, et al.
Annals of Neurology|August 19, 2023
CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK-Related SyndromeWeiqian Dai, He Wang, Yongkun Zhan, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 14, 2025
[Expert consensus on the prenatal ultrasound screening, diagnosis, and genetic counseling for Limb developmental defects (2025 Edition)]Obstetrics And Gynecology Ultrasound Group Ultrasound Branch Of Chinese Medical Association, Clinical Genetics Group Medical Geneticist Branch Chinese Medical Doctor Association, Group Of Genetic Disease Prevention And Control Birth Defect Prevention And Control Committee Chinese Society Of Preventive Medicine, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 14, 2025
[Expert consensus on the clinical diagnosis and treatment of Split-hand/foot malformations (2025 Edition)]Obstetrics And Gynecology Ultrasound Group Ultrasound Branch Of Chinese Medical Association, Clinical Genetics Group Medical Geneticist Branch Chinese Medical Doctor Association, Group Of Genetic Disease Prevention And Control Birth Defect Prevention And Control Committee Chinese Society Of Preventive Medicine, et al.
American Journal of Human Genetics|August 21, 2018
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial DysmorphismYanjie Fan, Wu Yin, Bing Hu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 14, 2025
[Expert consensus on the clinical diagnosis and treatment of Congenital syndactyly (2025 Edition)]Hand Plastic Surgery Committee Aesthetic And Plastic Surgeon Branch Of Chinese Medical Doctor Association, Clinical Genetics Group Medical Geneticist Branch Of Chinese Medical Doctor Association, Pediatric Plastic Surgery Group Plastic Surgery Branch Of Chinese Medical Association, et al.
Human Reproduction (Oxford, England)|November 20, 2023
Chinese experts' consensus guideline on preimplantation genetic testing of monogenic disordersLiying Yan, Yunxia Cao, Zi-Jiang Chen, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 14, 2025
[Expert consensus on the clinical diagnosis and treatment of Congenital macrodactyly (2025 Edition)]Hand Plastic Surgery Committee Aesthetic And Plastic Surgeon Branch Of Chinese Medical Doctor Association, Clinical Genetics Group Medical Geneticist Branch Of Chinese Medical Doctor Association, Pediatric Plastic Surgery Group Plastic Surgery Branch Of Chinese Medical Association, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|January 29, 2023
[Expert consensus on the detection of genome-wide copy number variations in abortive tissues and family reproductive consultation]Genetic Disease Prevention And Control Group Of Professional Committee For Birth Defect Prevention And Control Of Chinese Preventive Medicine Association, Clinical Genetics Group Medical Genetics Branch Of Chinese Medical Association, Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor Association, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|November 1, 2022
[Clinical practice guidelines for Fragile X syndrome]Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor Association, Clinical Genetics Group Of Medical Genetics Branch Of Chinese Medical Association, Genetic Disease Prevention And Control Group Of Professional Committee For Birth Defect Prevention And Control Of Chinese Preventive Medicine Association, et al.
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