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Meta Gene|February 11, 2016
Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 geneJuan Li, Niu Li, Yu Ding, et al.Gene|July 9, 2020
Further delineation of bone marrow failure syndrome caused by novel compound heterozygous variants of MYSM1Niu Li, Yufei Xu, Tingting Yu, et al.BMC Medical Genomics|December 10, 2020
Psychomotor development and attention problems caused by a splicing variant of CNKSR2Yi Zhang, Tingting Yu, Niu Li, et al.Journal of Thrombosis and Haemostasis : JTH|August 21, 2023
SINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombastheniaJiasheng Zhang, Jie Tang, Guoqiang Li, et al.Molecular Genetics & Genomic Medicine|September 21, 2021
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosisHuanhuan Liang, Niu Li, Ru-En Yao, et al.Medicine|May 18, 2017
Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature reviewNiu Li, Yufei Xu, Guoqiang Li, et al.Molecular Genetics & Genomic Medicine|October 19, 2020
TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutationsChen Wang, Yufei Xu, Yanrong Qing, et al.Clinical Neurology and Neurosurgery|February 9, 2017
Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complexTingting Yu, Yingzhong He, Niu Li, et al.Experimental and Therapeutic Medicine|October 1, 2017
Turner syndrome caused by rare complex structural abnormalities involving chromosome XNiu Li, Li Zhao, Juan Li, et al.International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|January 23, 2026
Prenatal Diagnosis of Radio-Tartaglia Syndrome Caused by a Loss-of-Function Variant in SPEN in a Chinese FamilyYimin He, Li Gao, Shixuan Xu, et al.Pageof 13