Showing results (71-80 of 124) with videos related to
Sort By:
Pageof 13
The Journal of Molecular Diagnostics : JMD|November 1, 2025
Enhanced Comprehension of the Pathogenicity of Splicing Variants: Evidence from a Range of in Vitro and in Vivo Functional AssaysYan Xu, Bin Hu, Xu Han, et al.BMC Medical Genetics|November 1, 2020
A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literatureLiying Sun, Qianwen Zhang, Qun Li, et al.Pediatric Research|August 26, 2018
Perioperative levels of total IgE correlate with outcomes of prolonged mechanical ventilation after cardiopulmonary bypass in pediatric patientsYoujin Li, Limin Zhu, Jie Chen, et al.Frontiers in Microbiology|July 28, 2023
Environmental heterogeneity shapes the C and S cycling-associated microbial community in Haima's cold seepsYu Chen, Tianjiao Dai, Niu Li, et al.Journal of Child Neurology|February 15, 2017
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical DevelopmentYulin Chen, Yufei Xu, Guoqiang Li, et al.Neurogenetics|October 30, 2021
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotypeHongzhu Chen, Niu Li, Yufei Xu, et al.BMC Medical Genomics|August 22, 2021
Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case reportGuoqiang Li, Guoying Chang, Chen Wang, et al.BMC Endocrine Disorders|March 17, 2022
Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese childrenGuoying Chang, Qun Li, Niu Li, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|January 7, 2018
Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1Yufei Xu, Yulin Chen, Niu Li, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|October 18, 2022
Diagnosis of patients with mucopolysaccharidosis type II via RNA sequencingJie Tang, Guoying Chang, Meili Wei, et al.Pageof 13