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Ruen Yao

Showing results (31-40 of 66) with videos related to

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Asian Pacific Journal of Allergy and Immunology|January 2, 2021
Novel variants in CIITA caused type II bare lymphocyte syndrome: A case reportYi Zhang, Yuko Yokoyama, Yanrong Qing, et al.
Frontiers in Genetics|January 7, 2022
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy CohortRuen Yao, Yunqing Zhou, Jie Tang, et al.
Pediatric Neurology|April 25, 2022
Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6Yi Zhang, Yafen Yu, Xiangyue Zhao, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 3, 2018
Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) geneYu Ding, Niu Li, Gouying Chang, et al.
Translational Pediatrics|May 13, 2022
Study of novel <i>NARS2</i> variants in patient of combined oxidative phosphorylation deficiency 24Yi Zhang, Xiangyue Zhao, Yufei Xu, et al.
European Journal of Medical Genetics|May 1, 2018
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)Guoqiang Li, Yufei Xu, Xuyun Hu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|July 15, 2019
[Analysis of SATB2 gene mutation in a child with Glass syndrome]Meili Lin, Ruen Yao, Jing Lu, et al.
Journal of Pharmaceutical and Biomedical Analysis|July 17, 2023
Simultaneous quantification and pharmacokinetics of vincristine and its major metabolite M1 in Chinese pediatric ALL patients by LC-MS/MSYawen Yuan, Changcheng Chen, Guoling You, et al.
BMC Medical Genomics|August 22, 2021
Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case reportGuoqiang Li, Guoying Chang, Chen Wang, et al.
Orphanet Journal of Rare Diseases|November 23, 2019
Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contractureNiu Li, Yufei Xu, Yi Zhang, et al.
Pageof 7

Showing results (31-40 of 66) with videos related to

Sort By:
Pageof 7
Asian Pacific Journal of Allergy and Immunology|January 2, 2021
Novel variants in CIITA caused type II bare lymphocyte syndrome: A case reportYi Zhang, Yuko Yokoyama, Yanrong Qing, et al.
Frontiers in Genetics|January 7, 2022
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy CohortRuen Yao, Yunqing Zhou, Jie Tang, et al.
Pediatric Neurology|April 25, 2022
Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6Yi Zhang, Yafen Yu, Xiangyue Zhao, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 3, 2018
Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) geneYu Ding, Niu Li, Gouying Chang, et al.
Translational Pediatrics|May 13, 2022
Study of novel <i>NARS2</i> variants in patient of combined oxidative phosphorylation deficiency 24Yi Zhang, Xiangyue Zhao, Yufei Xu, et al.
European Journal of Medical Genetics|May 1, 2018
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)Guoqiang Li, Yufei Xu, Xuyun Hu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|July 15, 2019
[Analysis of SATB2 gene mutation in a child with Glass syndrome]Meili Lin, Ruen Yao, Jing Lu, et al.
Journal of Pharmaceutical and Biomedical Analysis|July 17, 2023
Simultaneous quantification and pharmacokinetics of vincristine and its major metabolite M1 in Chinese pediatric ALL patients by LC-MS/MSYawen Yuan, Changcheng Chen, Guoling You, et al.
BMC Medical Genomics|August 22, 2021
Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case reportGuoqiang Li, Guoying Chang, Chen Wang, et al.
Orphanet Journal of Rare Diseases|November 23, 2019
Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contractureNiu Li, Yufei Xu, Yi Zhang, et al.
Pageof 7