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Frontiers in Genetics|January 23, 2023
Two novel variants in <i>CEP152</i> caused Seckel syndrome 5 in a Chinese familyLi Zhang, Yanling Teng, Haoran Hu, et al.International Journal of Molecular Sciences|July 27, 2024
O-Sialoglycoprotein Endopeptidase Deficiency Impairs Proteostasis and Induces Autophagy in Human Embryonic Stem CellsHua Teng, Siyi Chen, Fang Liu, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|August 4, 2016
A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigreeJinjie Xue, Qingping Gao, Yanru Huang, et al.Scientific Reports|January 14, 2025
Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15Jianyan Pan, Hua Teng, Fang Liu, et al.Prenatal Diagnosis|January 10, 2013
Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencingDesheng Liang, Weigang Lv, Hua Wang, et al.Journal of Medical Genetics|November 29, 2013
Correlation between FMR1 expression and clinical phenotype in discordant dichorionic-diamniotic monozygotic twin sisters with the fragile X mutationWen Huang, Shiyu Luo, Jianjun Ou, et al.Clinical Genetics|October 3, 2020
Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndromeLanlan Zeng, Zhibin Li, Lijuan Pan, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|December 3, 2009
[Identification of the small supernumerary marker chromosomes in two patients with Turner syndrome]Juan Wen, Desheng Liang, Xi Liao, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|March 4, 2022
Identification of four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemiaQimin Zhou, Yanling Teng, Jianyan Pan, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|March 6, 2019
[Genetic diagnosis and noninvasive prenatal testing of a family with Williams-Beuren syndrome]Yanhui Zhao, Hong Pang, Xiaojing Feng, et al.Pageof 20