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Frontiers in Pediatrics|August 18, 2023
A <i>de novo</i> heterozygous <i>POU3F3</i> genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literatureHongyun Zhang, Siyuan Linpeng, Yanling Teng, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 19, 2015
Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type IIILibin Mei, Yanru Huang, Qian Pan, et al.
International Heart Journal|August 14, 2018
Three Novel Mutations in FBN1 and TGFBR2 in Patients with the Syndromic Form of Thoracic Aortic Aneurysms and DissectionsYingxi Cao, Hu Tan, Zhuo Li, et al.
International Journal of Molecular Sciences|August 26, 2022
Full-Length Dystrophin Restoration via Targeted Exon Addition in DMD-Patient Specific iPSCs and CardiomyocytesRou Xiao, Miaojin Zhou, Peiyun Wang, et al.
Archives of Gynecology and Obstetrics|April 5, 2022
Fertilization and neonatal outcomes after early rescue intracytoplasmic sperm injection: a retrospective analysis of 16,769 patientsJun Zeng, Zhongyuan Yao, Yeqing Zhang, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 30, 2012
Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4pDesheng Liang, Zhongmin Zhou, Dahua Meng, et al.
Molecular Genetics and Metabolism|November 23, 2011
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduriaJinjie Xue, Jing Peng, Mingxing Zhou, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 15, 2015
Clinical and molecular investigation in Chinese patients with glutaric aciduria type IYanghui Zhang, Haoxian Li, Ruiyu Ma, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|June 15, 2014
[Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome]Yanru Huang, Libin Mei, Wei Su, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|January 31, 2015
[Prenatal diagnosis of a case of Pallister-Killian syndrome]Hui Xi, Hua Wang, Zhenjun Jia, et al.
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