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American Journal of Medical Genetics. Part A|April 5, 2014
A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2María C Barboza-Cerda, Lee-Jun Wong, Laura E Martínez-de-Villarreal, et al.
Human Reproduction (Oxford, England)|February 9, 2017
Genetic evidence of 'genuine' empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literaturePing Yuan, Zuyong He, Lingyan Zheng, et al.
Molecular Neurobiology|July 8, 2020
The Study of Genetic Susceptibility and Mitochondrial Dysfunction in Mesial Temporal Lobe EpilepsyHaiyan Yang, Fei Yin, Siyi Gan, et al.
Frontiers in Genetics|April 25, 2022
Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in the <i>ABCA3</i> GeneFang Chen, Zhiwei Xie, Victor Wei Zhang, et al.
Prenatal Diagnosis|September 6, 2021
Exome-based preconception carrier testing for consanguineous couples in ChinaYi He, Run-Gui Xie, Ji-Wu Lou, et al.
BMC Neurology|October 22, 2018
Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IEWenxia Zheng, Zhenxing Yan, Rongni He, et al.
Orphanet Journal of Rare Diseases|August 16, 2018
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patientsLiang Wang, Victor Wei Zhang, Shaoyuan Li, et al.
Frontiers in Genetics|April 1, 2022
Case Report: Be Aware of "New" Features of Niemann-Pick Disease: Insights From Two Pediatric CasesFan Chen, Shan Guo, Xuesong Li, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|June 6, 2020
Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomaliesMin Chen, Jingsi Chen, Chunli Wang, et al.
Immunobiology|September 23, 2020
B-lymphocyte deficiency and recurrent respiratory infections in a 6-month-old female infant with mosaic monosomy 7Kailin Mai, Xiaowen Chen, Chunli Wang, et al.
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