Y. Hua

发表

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

Yun Yuan, C. Bönnemann, Chunde Li, 2021, Orphanet Journal of Rare Diseases.

Gut Microbiome Composition Abnormalities Determined Using High-Throughput Sequencing in Children With Tic Disorder

Houxi Xu, Y. Hua, Yanping Wang, 2022, Frontiers in Pediatrics.

Neutrophil-to-Lymphocyte Ratio Predicts Intravenous Immunoglobulin-Resistance in Infants Under 12-Months Old With Kawasaki Disease

Yongbing Chen, Y. Liao, Yu-li Wang, 2019, Front. Pediatr..

Efficacy of methylprednisolone therapy in atypical Rolandic epilepsy with heterozygous RELN mutation

Y. Hua, Miao Jing, Xiaoyue Hu, 2019 .

Inflammatory cytokine profiles of serum and cerebrospinal fluid in Chinese children with hand, foot and mouth disease.

Y. Hua, W. Gong, Yanping Wang, 2017, International journal of clinical and experimental pathology.

[A rhabdomyosarcoma patient from a Li-Fraumeni syndrome family: a case report and literature review].

Qing Sun, Yao Xie, Wei-hong Zhao, 2017, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A

U. Keyal, A. K. Bhatta, Y. Hua, 2017, Journal of the European Academy of Dermatology and Venereology : JEADV.

[Intermittent convulsions for 1.5 years and psychomotor retardation in a girl].

Y. Hua, Yufen Li, Li-Yun Xu, 2017, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients

Yun Yuan, Ning Wang, T. Toda, 2020, Clinical genetics.

[Topiramate loading for treatment of a case with status epilepticus].

Xiao-yan Liu, H. Xiong, Y. Hua, 2008, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy

R. Du, Ling Zhang, Yuwu Jiang, 2018, Scientific Reports.

[Adverse effects of high-dose methotrexate therapy].

Qing Sun, Yao Xie, Wei-hong Zhao, 2017, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Analysis of four Chinese patients with neonatal–onset isovaleric acidemia

Yuan Ding, Xi-yuan Li, Yupeng Liu, 2015 .

Congenital muscular dystrophies in China

Zhaoxia Wang, Yun Yuan, C. Bönnemann, 2019, Clinical genetics.

Inadequate Iron Stores in Early Term Neonates

N. Kaciroti, B. Lozoff, Xing Li, 2018, Journal of Perinatology.

Analysis of serial electroencephalographic predictors of seizure recurrence in Rolandic epilepsy

Y. Hua, Yanping Wang, Miao Jing, 2019, Child's Nervous System.

Clinical observation on acupoint injection for back pain in patients with primary osteoporosis

Y. Hua, Yan Wang, Shao-chang Wu, 2020, Journal of Acupuncture and Tuina Science.

Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses.

Yanling Yang, Yuan Ding, Xi-yuan Li, 2016, European journal of medical genetics.

Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy.

Y. Hua, Jing Huang, Yanping Wang, 2021, Epileptic disorders.

[von Willebrand disease: a case report].

Y. Hua, Zheng-hong Li, Xin-tian Lu, 2003, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder

Yanling Yang, X. Chang, H. Xiong, 2023, Frontiers in Pediatrics.

Apolipoprotein E knockout induced inflammatory responses related to microglia in neonatal mice brain via astrocytes.

Xiaohua Xu, Y. Hua, Jinwen Xu, 2015, International journal of clinical and experimental medicine.

A potential new recombinant echovirus 18 strain detected in a 4-year-old child with encephalitis in China in 2019

Mingxia Sun, Y. Hua, Jun Qian, 2021, Archives of Virology.

Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese family

Yao Xie, Wei-hong Zhao, Y. Hua, 2019, Hematology.

Functional analysis of a novel de novo SCN2A variant in a patient with seizures refractory to oxcarbazepine

Y. Hua, Yanping Wang, Miao Jing, 2023, Frontiers in Molecular Neuroscience.