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Frontiers in Endocrinology|June 26, 2026
Coexistence of 21-hydroxylase deficiency and Gitelman syndrome in a neonate presenting with severe hyponatremic seizures: a case reportRuiping Zhang, Ying Zhang, Yanyan Nie, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|May 31, 2020
[Analysis of DPYS gene variants in a child with dihydropyrimidase deficiency]Meifang Lei, Hong Li, Yuqin Zhang, et al.
Frontiers in Pediatrics|July 18, 2022
Association Between Methylmalonic Acid and Cognition: A Systematic Review and Meta-AnalysisChao Wang, Ying Zhang, Jianbo Shu, et al.
Frontiers in Pediatrics|June 7, 2022
Clinical and Magnetic Resonance Imaging Characteristics of Pediatric Acute Disseminating Encephalomyelitis With and Without Antibodies to Myelin Oligodendrocyte GlycoproteinMeifang Lei, Yaqiong Cui, Zhaoying Dong, et al.
Genetics Research|June 23, 2025
Association of IRX6 rs6499755 and HAAO rs3816183 Polymorphisms With Hypospadias Susceptibility in Northern Chinese Han PopulationNan Liu, Yuping Yu, Ziying Chen, et al.
BMC Medical Genetics|November 11, 2019
A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case reportQianqian Zou, Zhigang Tian, Jie Zheng, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|May 6, 2019
[Deletional variant of REEP1 gene in a pedigree affected with spastic paraplegia type 31]Gang Xu, Yan Niu, Shujuan Chen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 28, 2021
RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasiaChunyu Gu, Hong Wang, Jianbo Shu, et al.
European Journal of Clinical Microbiology & Infectious Diseases : Official Publication of the European Society of Clinical Microbiology|January 24, 2025
Pathogenic characterization and drug resistance of neonatal sepsis in China: a systematic review and meta-analysisRuixue Wu, Xiaoyu Cui, Rui Pan, et al.
Global Medical Genetics|January 17, 2024
A Pair of Compound Heterozygous IARS2 Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese PatientFeiyu Zhou, Gui Yi, Xiangyu Liu, et al.
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