Xianda Wei

发表

Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome

C. Chen, Q. Pan, D. Liang, 2016, BMC Medical Genetics.

Molecular investigation in Chinese patients with primary carnitine deficiency

Lingqian Wu, Jing Liu, Haoxian Li, 2019, Molecular genetics & genomic medicine.

Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases

D. Liang, Lingqian Wu, Yongyi Zou, 2017, Journal of Human Genetics.

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

D. Liang, Lingqian Wu, N. Gai, 2017, Clinica chimica acta; international journal of clinical chemistry.

Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient.

C. Chen, Q. Pan, D. Liang, 2015, Gene.

A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report

D. Liang, Lingqian Wu, Haoxian Li, 2017, Familial Cancer.

Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data

D. Liang, Lingqian Wu, L. Mei, 2017, Journal of Genetic Counseling.

Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature

Zhihong Wu, Hengqiang Zhao, N. Wu, 2021, Frontiers in Cell and Developmental Biology.

A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies

Jing Guo, Desheng Liang, Lingqian Wu, 2017, Scientific Reports.

Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five‐generation family

Shaoke Chen, B. Gui, B. Xie, 2022, Molecular genetics & genomic medicine.

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review

D. Liang, Lingqian Wu, Haoxian Li, 2016, American Journal of Medical Genetics. Part A.

Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.

D. Liang, Lingqian Wu, Haoxian Li, 2016, Clinica chimica acta; international journal of clinical chemistry.

Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).

D. Liang, D. Cram, Lingqian Wu, 2015, Clinical chemistry.

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

D. Liang, Lingqian Wu, N. Gai, 2017, Clinica chimica acta; international journal of clinical chemistry.