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Zihui Yan

Showing results (41-50 of 50) with videos related to

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Human Genetics|July 19, 2018
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to diseaseJiaqi Liu, Yangzhong Zhou, Sen Liu, et al.
Frontiers in Endocrinology|September 30, 2021
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency PatientsChenxi Yu, Bobo Xie, Zhengye Zhao, et al.
Journal of Medical Genetics|August 19, 2018
Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)Kun Wang, Sen Zhao, Bowen Liu, et al.
NPJ Genomic Medicine|February 16, 2022
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disordersSen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, et al.
Human Mutation|September 1, 2019
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance diseaseWeisheng Chen, Jiachen Lin, Lianlei Wang, et al.
Molecular Genetics & Genomic Medicine|November 28, 2019
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1Mao Lin, Zhenlei Liu, Gang Liu, et al.
Genome Medicine|February 25, 2022
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype dataJiaqi Liu, Hengqiang Zhao, Yu Zheng, et al.
American Journal of Human Genetics|January 12, 2021
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndromeNa Chen, Sen Zhao, Angad Jolly, et al.
Journal of Medical Genetics|May 9, 2020
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)Sen Zhao, Yuanqiang Zhang, Weisheng Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2019
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage modelJiaqi Liu, Nan Wu, , et al.
Pageof 5

Showing results (41-50 of 50) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 50 results.
Human Genetics|July 19, 2018
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to diseaseJiaqi Liu, Yangzhong Zhou, Sen Liu, et al.
Frontiers in Endocrinology|September 30, 2021
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency PatientsChenxi Yu, Bobo Xie, Zhengye Zhao, et al.
Journal of Medical Genetics|August 19, 2018
Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)Kun Wang, Sen Zhao, Bowen Liu, et al.
NPJ Genomic Medicine|February 16, 2022
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disordersSen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, et al.
Human Mutation|September 1, 2019
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance diseaseWeisheng Chen, Jiachen Lin, Lianlei Wang, et al.
Molecular Genetics & Genomic Medicine|November 28, 2019
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1Mao Lin, Zhenlei Liu, Gang Liu, et al.
Genome Medicine|February 25, 2022
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype dataJiaqi Liu, Hengqiang Zhao, Yu Zheng, et al.
American Journal of Human Genetics|January 12, 2021
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndromeNa Chen, Sen Zhao, Angad Jolly, et al.
Journal of Medical Genetics|May 9, 2020
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)Sen Zhao, Yuanqiang Zhang, Weisheng Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2019
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage modelJiaqi Liu, Nan Wu, , et al.
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