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Ruen Yao

Showing results (51-60 of 66) with videos related to

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BMC Pediatrics|January 6, 2026
A case report: Guillain-Barré syndrome probably associated with TNF inhibitor in Blau syndromeXiqiong Han, Yingying Jin, Chenxi Liu, et al.
The Canadian Journal of Cardiology|October 13, 2024
Clinical and Genetic Profile of Chinese Children With Danon Disease: A Single-Center Retrospective Cohort StudyQingni Zhang, Wenxiu Chan, Yiwei Chen, et al.
BMC Endocrine Disorders|January 11, 2024
Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemiaGuoying Chang, Lingwen Ying, Qianwen Zhang, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|October 28, 2021
Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature reviewArman Zhao, Dandan Shu, Daxue Zhang, et al.
Molecular and Cellular Endocrinology|August 21, 2018
Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failureTingting Yu, Guoying Chang, Qing Cheng, et al.
Clinical Pharmacology and Therapeutics|October 5, 2024
Pharmacokinetic, Pharmacodynamic and Pharmacogenetic Studies Related to Vincristine-Induced Peripheral Neuropathy in Chinese Pediatric ALL PatientsYawen Yuan, Wenting Hu, Changcheng Chen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 3, 2021
Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature reviewArman Zhao, Rui Zhou, Qin Gu, et al.
The Journal of Clinical Endocrinology and Metabolism|December 1, 2021
Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short StatureXin Li, Ruen Yao, Guoying Chang, et al.
Scientific Reports|March 16, 2017
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual DevelopmentYanjie Fan, Xia Zhang, Lili Wang, et al.
European Journal of Endocrinology|July 6, 2019
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex developmentYufei Xu, Yirou Wang, Niu Li, et al.
Pageof 7

Showing results (51-60 of 66) with videos related to

Sort By:
Pageof 7
BMC Pediatrics|January 6, 2026
A case report: Guillain-Barré syndrome probably associated with TNF inhibitor in Blau syndromeXiqiong Han, Yingying Jin, Chenxi Liu, et al.
The Canadian Journal of Cardiology|October 13, 2024
Clinical and Genetic Profile of Chinese Children With Danon Disease: A Single-Center Retrospective Cohort StudyQingni Zhang, Wenxiu Chan, Yiwei Chen, et al.
BMC Endocrine Disorders|January 11, 2024
Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemiaGuoying Chang, Lingwen Ying, Qianwen Zhang, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|October 28, 2021
Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature reviewArman Zhao, Dandan Shu, Daxue Zhang, et al.
Molecular and Cellular Endocrinology|August 21, 2018
Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failureTingting Yu, Guoying Chang, Qing Cheng, et al.
Clinical Pharmacology and Therapeutics|October 5, 2024
Pharmacokinetic, Pharmacodynamic and Pharmacogenetic Studies Related to Vincristine-Induced Peripheral Neuropathy in Chinese Pediatric ALL PatientsYawen Yuan, Wenting Hu, Changcheng Chen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 3, 2021
Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature reviewArman Zhao, Rui Zhou, Qin Gu, et al.
The Journal of Clinical Endocrinology and Metabolism|December 1, 2021
Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short StatureXin Li, Ruen Yao, Guoying Chang, et al.
Scientific Reports|March 16, 2017
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual DevelopmentYanjie Fan, Xia Zhang, Lili Wang, et al.
European Journal of Endocrinology|July 6, 2019
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex developmentYufei Xu, Yirou Wang, Niu Li, et al.
Pageof 7