Y. Hao

发表

Reduced sarcolemmal aquaporin 4 expression can support the differential diagnosis of neuromyelitis optica spectrum disorders

Wei Wang, Lei Cui, Weiliang Sun, 2019, Journal of Neuroimmunology.

A melting curve analysis--based PCR assay for one-step genotyping of β-thalassemia mutations a multicenter validation.

Qingge Li, Xiaoyun Chen, Xiangmin Xu, 2011, The Journal of molecular diagnostics : JMD.

Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings

W. Gu, Y. Hao, Jin Zhang, 2013, Annals of Indian Academy of Neurology.

A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities

D. Fan, J. Jiao, H. Wen, 2016, Front. Aging Neurosci..

Clinical phenotype and genetic mutation of one case with head tremor and cerebellar atrophy

Kunpeng Xie, W. Gu, Y. Hao, 2017 .

Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants

X. Duan, Ren-bin Wang, W. Gu, 2020, The Cerebellum.

Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients

Yuting Zhang, Jing Li, Guochun Wang, 2021, Orphanet Journal of Rare Diseases.

Spinocerebellar ataxia type 10 in Chinese Han

T. Ashizawa, G. Xia, C. Mulligan, 2015, Neurology: Genetics.

Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants

X. Duan, Ren-bin Wang, W. Gu, 2020, The Cerebellum.

[Two novel TSC2 frameshift mutations in tuberous sclerosis complex].

Weiqin Wu, Jian-sheng Xie, Cai-qun Luo, 2017, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family

W. Gu, Y. Hao, Zhenhua Cao, 2017, The Cerebellum.

Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy

Yang Liu, Zhi-yong Xu, Jiansheng Xie, 2019, Expert review of molecular diagnostics.

Prenatal and postnatal diagnosis of Phelan–McDermid syndrome: A report of 21 cases from a medical center and review of the literature

Yang Liu, Peining Li, Jiansheng Xie, 2022, Frontiers in Genetics.

Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family

Peng Yu, W. Gu, Y. Hao, 2017, The Cerebellum.

Clinical and genetic study of ataxia with isolated vitamin E deficiency

W. Gu, Y. Hao, Yuan-yuan Chen, 2014 .

A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature

X. Bao, Qingping Zhang, Huiping Wang, 2023, Frontiers in Pediatrics.

Huntingtin gene CAG repeat numbers in Chinese patients with Huntington's disease and controls

J. Burgunder, Z. Pei, H. Jiang, 2014, European journal of neurology.

[Identification of a novel KIF21A gene mutation in a Chinese family with congenital fibrosis of the extraocular muscles].

Yading Jia, Y. Hao, C. Xia, 2022, [Zhonghua yan ke za zhi] Chinese journal of ophthalmology.