Showing results (41-50 of 77) with videos related to

Sort By:
Pageof 8
Pediatric Neurology|May 23, 2024
Novel Genetic Variants Distinguishing Myelin Oligodendrocyte Glycoprotein-IgG-Positive From Myelin Oligodendrocyte Glycoprotein-IgG-Negative Pediatric Acute Disseminated Encephalomyelitis in Northern ChinaYaqiong Cui, Bo Wu, Jinying Wu, et al.
BMC Pediatrics|July 20, 2022
Beware of missed diagnosis in patients with multiple genetic diseases: a case reportDetong Guo, Xuemei Li, Nan Liu, et al.
Pediatric Research|September 24, 2025
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patientsShuyue Zhang, Xuetao Wang, Jing Meng, et al.
Italian Journal of Pediatrics|May 13, 2022
A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature reviewYing Zhang, Yanyan Nie, Yu Mu, et al.
Journal of Thoracic Disease|March 13, 2023
Serum vitamin D3 deficiency can affect the efficacy of sublingual immunotherapy in children with allergic rhinitis: a retrospective cohort studyLiang Li, Xiaojian Cui, Xinjie Zhang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|November 10, 2021
A functional study for verifying the pathogenicity of a TRPM6 variant of uncertain significance: A novel non-canonical splicing-site variant in primary hypomagnesemia with secondary hypocalcemiaPing Wang, Ying Qian, Chunyu Gu, et al.
Frontiers in Pediatrics|October 24, 2022
Vitamin D levels and Vitamin D-related gene polymorphisms in Chinese children with type 1 diabetesXiaofang Chen, Jia Fu, Ying Qian, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|September 20, 2014
Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern ChinaJianbo Shu, Xiqian Lv, Shuzhen Jiang, et al.
Frontiers in Pediatrics|June 17, 2022
Case Report: Recurrent Hemiplegic Migraine Attacks Accompanied by Intractable Hypomagnesemia Due to a de novo TRPM7 Gene VariantMeifang Lei, Ping Wang, Hong Li, et al.
Molecular Genetics & Genomic Medicine|March 28, 2024
Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis: A case report and review of literatureJiaci Li, Xinping Wei, Yuchen Sun, et al.
Pageof 8