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Shaoke Chen

Showing results (31-40 of 80) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|May 28, 2020
Putative regulators for the continuum of erythroid differentiation revealed by single-cell transcriptome of human BM and UCB cellsPeng Huang, Yongzhong Zhao, Jianmei Zhong, et al.
Molecular Cytogenetics|August 26, 2016
Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disabilityShujie Zhang, Haisong Qin, Jin Wang, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|June 13, 2017
[Application of SNP-array technology in the genetic analysis of pediatric patients with growth retardation]Shiyu Luo, Chunyun Fu, Shujie Zhang, et al.
Journal of Personalized Medicine|May 28, 2022
Growth Curves of Chinese Children with Androgen Insensitivity Syndrome: A Multicenter Registry StudyXiu Zhao, Zhe Su, Shaoke Chen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 21, 2017
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidismXin Fan, Chunyun Fu, Yiping Shen, et al.
BMJ Open|May 14, 2016
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidismChunyun Fu, Bobo Xie, Shujie Zhang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 27, 2019
The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversityHongdou Li, Bingjuan Cheng, Xuyun Hu, et al.
Archives of Endocrinology and Metabolism|February 18, 2016
Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidismChunyun Fu, Haiyang Zheng, Shujie Zhang, et al.
Frontiers in Genetics|December 12, 2022
Case report: A novel heterozygous synonymous variant in deep exon region of <i>NIPBL</i> gene generating a non-canonical splice donor in a patient with cornelia de lange syndromeMeizhen Shi, Yuying Liang, Bobo Xie, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 4, 2018
Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformationsChunyun Fu, Shiyu Luo, Yue Zhang, et al.
Pageof 8

Showing results (31-40 of 80) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|May 28, 2020
Putative regulators for the continuum of erythroid differentiation revealed by single-cell transcriptome of human BM and UCB cellsPeng Huang, Yongzhong Zhao, Jianmei Zhong, et al.
Molecular Cytogenetics|August 26, 2016
Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disabilityShujie Zhang, Haisong Qin, Jin Wang, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|June 13, 2017
[Application of SNP-array technology in the genetic analysis of pediatric patients with growth retardation]Shiyu Luo, Chunyun Fu, Shujie Zhang, et al.
Journal of Personalized Medicine|May 28, 2022
Growth Curves of Chinese Children with Androgen Insensitivity Syndrome: A Multicenter Registry StudyXiu Zhao, Zhe Su, Shaoke Chen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 21, 2017
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidismXin Fan, Chunyun Fu, Yiping Shen, et al.
BMJ Open|May 14, 2016
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidismChunyun Fu, Bobo Xie, Shujie Zhang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 27, 2019
The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversityHongdou Li, Bingjuan Cheng, Xuyun Hu, et al.
Archives of Endocrinology and Metabolism|February 18, 2016
Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidismChunyun Fu, Haiyang Zheng, Shujie Zhang, et al.
Frontiers in Genetics|December 12, 2022
Case report: A novel heterozygous synonymous variant in deep exon region of <i>NIPBL</i> gene generating a non-canonical splice donor in a patient with cornelia de lange syndromeMeizhen Shi, Yuying Liang, Bobo Xie, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 4, 2018
Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformationsChunyun Fu, Shiyu Luo, Yue Zhang, et al.
Pageof 8