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Ruen Yao

Showing results (21-30 of 66) with videos related to

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BMC Medical Genomics|July 18, 2018
Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case reportRuen Yao, Tingting Yu, Yufei Xu, et al.
Frontiers in Pediatrics|February 14, 2022
Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the <i>SEPSECS</i> GeneTingyu Rong, Ruen Yao, Yujiao Deng, et al.
BMC Medical Genomics|August 12, 2021
A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case reportQianwen Zhang, Ruen Yao, Qun Li, et al.
Journal of Molecular Neuroscience : MN|January 17, 2020
Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and EpilepsyRuen Yao, Yi Zhang, Jie Liu, et al.
Molecular Cytogenetics|August 31, 2017
Evaluation of three read-depth based CNV detection tools using whole-exome sequencing dataRuen Yao, Cheng Zhang, Tingting Yu, et al.
BMC Genomics|September 18, 2015
De novo mutations in ARID1B associated with both syndromic and non-syndromic short statureYongguo Yu, RuEn Yao, Lili Wang, et al.
Translational Pediatrics|September 15, 2025
Novel variants in <i>ZNF462</i> and phenotype update in patients with Weiss-Kruszka syndrome: a case seriesWan Huai, Juan Li, Xin Li, et al.
Genes|November 14, 2019
Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 ChildrenRuen Yao, Tingting Yu, Yufei Xu, et al.
Molecular Genetics & Genomic Medicine|October 19, 2020
TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutationsChen Wang, Yufei Xu, Yanrong Qing, et al.
BMC Medical Genetics|August 7, 2019
De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotypeYanrui Jiang, Huizhen Sun, Qingmin Lin, et al.
Pageof 7

Showing results (21-30 of 66) with videos related to

Sort By:
Pageof 7
BMC Medical Genomics|July 18, 2018
Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case reportRuen Yao, Tingting Yu, Yufei Xu, et al.
Frontiers in Pediatrics|February 14, 2022
Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the <i>SEPSECS</i> GeneTingyu Rong, Ruen Yao, Yujiao Deng, et al.
BMC Medical Genomics|August 12, 2021
A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case reportQianwen Zhang, Ruen Yao, Qun Li, et al.
Journal of Molecular Neuroscience : MN|January 17, 2020
Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and EpilepsyRuen Yao, Yi Zhang, Jie Liu, et al.
Molecular Cytogenetics|August 31, 2017
Evaluation of three read-depth based CNV detection tools using whole-exome sequencing dataRuen Yao, Cheng Zhang, Tingting Yu, et al.
BMC Genomics|September 18, 2015
De novo mutations in ARID1B associated with both syndromic and non-syndromic short statureYongguo Yu, RuEn Yao, Lili Wang, et al.
Translational Pediatrics|September 15, 2025
Novel variants in <i>ZNF462</i> and phenotype update in patients with Weiss-Kruszka syndrome: a case seriesWan Huai, Juan Li, Xin Li, et al.
Genes|November 14, 2019
Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 ChildrenRuen Yao, Tingting Yu, Yufei Xu, et al.
Molecular Genetics & Genomic Medicine|October 19, 2020
TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutationsChen Wang, Yufei Xu, Yanrong Qing, et al.
BMC Medical Genetics|August 7, 2019
De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotypeYanrui Jiang, Huizhen Sun, Qingmin Lin, et al.
Pageof 7