Shao-ying Li

发表

Duchenne muscular dystrophy in a female patient with a karyotype of 46,X,i(X)(q10).

WeiQiang Liu, Xiaofang Sun, Z. Ou, 2010, The Tohoku journal of experimental medicine.

Derivation and characterization of human embryonic stem cell lines from poor quality embryos.

WeiQiang Liu, Xiaofang Sun, Yonghua Jiang, 2009, Journal of genetics and genomics = Yi chuan xue bao.

WeiQiang Liu, Xiaofang Sun, Yulin Huang, 2008, Human reproduction.

Survival motor neuron 1 (SMN1) gene acts as a promising prognostic biomarker for potential spinal muscular atrophy in the Chinese population

J. Xian, Shao-ying Li, Xiao-yan Ma, 2017 .

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

J. Xian, Shao-ying Li, Yan-Chao Wang, 2022, Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis.

Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives

Shao-ying Li, Jianqiao Liu, Hongzi Du, 2020, BMC Medical Genomics.

Developmental potential of human oocytes reconstructed by transferring somatic cell nuclei into polyspermic zygote cytoplasm.

Xiaofang Sun, Yulin Huang, Yong Fan, 2009, Biochemical and biophysical research communications.

MLPA-based genotype–phenotype analysis in 1053 Chinese patients with DMD/BMD

Fei Chen, Shao-ying Li, Jing Li, 2013, BMC Medical Genetics.

F8 gene inversion and duplication cause no obvious hemophilia A phenotype

M. Zhang, Yanchao Wang, Shao-ying Li, 2023, Frontiers in Genetics.

Genetic and epigenetic X-chromosome variations in a parthenogenetic human embryonic stem cell line

Shaorong Gao, WeiQiang Liu, Xiaofang Sun, 2011, Journal of Assisted Reproduction and Genetics.

[Analysis of de novo copy number variations in a family affected with autism spectrum disorders using high-resolution array-based comparative genomic hybridization].

WeiQiang Liu, Xiao-fang Sun, Shao-ying Li, 2012, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

A More Universal Approach to Comprehensive Analysis of ThalaSsemia Alleles (CATSA).

H. Qi, D. Cram, Lingqian Wu, 2021, The Journal of molecular diagnostics : JMD.

High-resolution chromosomal microarray analysis of early-stage human embryonic stem cells reveals an association between X chromosome instability and skewed X inactivation

Xiaofang Sun, Detu Zhu, Yong Fan, 2014, Cell & Bioscience.

Monozygotic quadruplets after in vitro fertilization and embryo transfer.

Xiao-fang Sun, Feng-hua Liu, Shao-ying Li, 2010, Fertility and Sterility.

Prenatal molecular diagnosis of Duchenne and Becker muscular dystrophy.

D. Hu, Xiao-fang Sun, Dunjin Chen, 2006, Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences.

[Association of mutation types and distribution characteristics of dystrophin gene with clinical symptoms in Chinese population].

Xiao-fang Sun, Shao-ying Li, Xiao-man Wang, 2011, Yi chuan = Hereditas.