Xiang Chen

发表

Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations

Qingfeng Xie, Yangyang Wang, Xiang Chen, 2019, Experimental and therapeutic medicine.

A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia

T. Cai, Xiang Chen, Haixia Zhang, 2019, BMC Medical Genetics.

Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy

T. Cai, Xiang Chen, B. Xiang, 2017, Neuromuscular Disorders.

Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging

Zhongsheng Sun, Jinchen Li, Sen Guo, 2017, Molecular Neurobiology.

Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities

Jinchen Li, T. Cai, Zhouwen He, 2017, American journal of hematology.

Expression of insulinoma-associated 2 (INSM2) in pancreatic islet cells is regulated by the transcription factors Ngn3 and NeuroD1.

M. Lan, T. Cai, A. Notkins, 2011, Endocrinology.

Co-existence of isodicentric Ph chromosomes and the three-way Ph chromosome variant t(3;9;22)(p21;q34;q11) in a rare case of chronic myeloid leukemia.

Xiang Chen, Hui Chen, Zhen Li, 2018, Oncology letters.

A De novo Loss-of-Function Mutation in PAFAH1B1 Identified in a Single Case with Agyria–Pachygyria Complex

Wei Chen, T. Cai, Xiang Chen, 2019, Journal of Pediatric Neurology.

The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy.

P. Yu, T. Cai, Xiang Chen, 2016, Molecular medicine reports.

Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis

T. Cai, Xiang Chen, Yi Gu, 2020, BMC Medical Genetics.

Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst

T. Cai, Xiang Chen, Bingwu Xiang, 2019, Medicine.