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Epileptic Disorders : International Epilepsy Journal with Videotape|May 16, 2024
DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literatureChunyu Gu, Xinping Wei, Dandan Yan, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 30, 2015
[Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiency]Jianbo Shu, Shuxiang Lin, Yingtao Meng, et al.
Frontiers in Pediatrics|December 13, 2021
Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese PatientsPing Wang, Jianbo Shu, Chunyu Gu, et al.
BMC Pediatrics|May 16, 2022
The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type IIIJing Wang, Yuping Yu, Chunquan Cai, et al.
Nephron|March 6, 2023
Identification of a Splicing Variant c.3813-3A>G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with NephronophthisisXinjie Zhang, Xiufang Zhi, Xin Wang, et al.
Neuropharmacology|December 3, 2023
Network-based analysis on the genes and their interactions reveals link between schizophrenia and Alzheimer's diseasePan Guo, Chao Meng, Shuyue Zhang, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|February 11, 2017
[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency]Jianbo Shu, Fengying Cai, Wenxuan Fan, et al.
Molecular Biology Reports|September 18, 2022
The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature reviewXiangyu Liu, Jing Meng, Jinhui Ma, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|July 4, 2020
[Rapid screening of a hotspot variant c.609G>A in MMACHC gene by using PCR-high-resolution melting curve analysis]Shuxiang Lin, Chao Wang, Xinjie Zhang, et al.
BMC Pediatrics|July 30, 2022
What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case reportChunyu Gu, Xiaowei Lu, Jinhui Ma, et al.
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