L. Mei

发表

Morphometric analysis and developmental comparison of embryos from carriers with balanced chromosomal rearrangements in preimplantation genetic diagnosis cycles.

D. Liang, Lingqian Wu, Yanru Huang, 2016, Reproduction, fertility, and development.

A Novel de novo Mutation in EBF3 Associated With Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy

Yanru Huang, Ping Li, Xiaomin Ma, 2021, Frontiers in Genetics.

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

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

Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III.

Q. Pan, W. Su, D. Liang, 2015, Clinica chimica acta; international journal of clinical chemistry.

Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.

Q. Pan, D. Liang, Lingqian Wu, 2015, Gene.

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.

Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.

D. Liang, Lingqian Wu, Ying Peng, 2015, Gene.

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

Q. Pan, D. Liang, Lingqian Wu, 2015, Gene.

Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers.

D. Liang, Lingqian Wu, Yanru Huang, 2016, Reproduction.

A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family

Q. Pan, W. Su, L. Wu, 2014, Eye.

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.

Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII.

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

[Clinical and molecular genetic analysis of a patient with 3-M syndrome].

Yanru Huang, L. Mei, Yun-sheng Ge, 2021, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.