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Zhonghua Yi Xue Za Zhi|July 12, 2023
[Novel frameshift mutations in SALL4 in two Chinese families with Okihiro syndrome]Y Bai, Q H Wu, F Z Li, et al.Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology|December 31, 2014
Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan familyN Liu, Z-H Zhuo, H-L Wang, et al.Zhonghua Fu Chan Ke Za Zhi|January 7, 2017
[PTPS gene analysis and prenatal diagnosis in patients with 6-pyruvoyl-tetra hydropterin synthase deficiency]N Liu, D H Zhao, X L Li, et al.Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics|September 28, 2020
[Analysis of MYO15A variation in children with DFNB3]S M Ren, Q H Wu, Z H Jiao, et al.Zhonghua Fu Chan Ke Za Zhi|November 28, 2017
[Analysis of non-invasive prenatal screening detection in fetal chromosome aneuploidy]A J Cai, C F Zhu, S W Xue, et al.Genetics and Molecular Research : GMR|March 3, 2015
A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataractX D Kong, N Liu, H R Shi, et al.Zhonghua Yi Xue Za Zhi|April 7, 2026
[Clinical and genetic characteristics of pseudohypoparathyroidism type 1]F Y Tian, J Qing, C F Zhu, et al.Zhonghua Fu Chan Ke Za Zhi|August 6, 2018
[Application of single nucleotide polymorphism array in prenatal diagnosis for fetuses with abnormal ultrasound findings]Y L Guo, L Wang, S W Xue, et al.Genetics and Molecular Research : GMR|October 10, 2014
Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduriaX D Kong, H R Shi, N Liu, et al.Zhonghua Yi Xue Za Zhi|February 12, 2025
[Application value of non-invasive prenatal diagnosis for recessive monogenic genetic diseases based on relative haplotype dosage changes]H Y Li, Z H Zhao, L R Kong, et al.Pageof 4