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Yi Chuan = Hereditas
|
March 11, 2025
Expert consensus on clinical genome sequencing interpretation and reporting
Yulan Lu, Guozhuang Li, Yaqiong Wang, et al.
American Journal of Human Genetics
|
April 9, 2024
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing
Shenglan Li, Sen Zhao, Jefferson C Sinson, et al.
NPJ Genomic Medicine
|
February 16, 2022
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
Sen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, et al.
Human Mutation
|
September 1, 2019
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease
Weisheng Chen, Jiachen Lin, Lianlei Wang, et al.
Brain : a Journal of Neurology
|
March 4, 2023
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment
Fang Liu, Chen Liang, Zhengchang Li, et al.
HGG Advances
|
May 1, 2023
Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome
Angad Jolly, Haowei Du, Christelle Borel, et al.
Molecular Genetics & Genomic Medicine
|
November 28, 2019
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1
Mao 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 data
Jiaqi Liu, Hengqiang Zhao, Yu Zheng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 16, 2022
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome
Congcong Ma, Na Chen, Angad Jolly, et al.
Elife
|
July 15, 2025
EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis
Lianlei Wang, Xinyu Yang, Sen Zhao, et al.
Page
of 35
Search research articles
Search
Showing results (331-340 of 346) with videos related to
Sort By:
Page
of 35
Yi Chuan = Hereditas
|
March 11, 2025
Expert consensus on clinical genome sequencing interpretation and reporting
Yulan Lu, Guozhuang Li, Yaqiong Wang, et al.
American Journal of Human Genetics
|
April 9, 2024
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing
Shenglan Li, Sen Zhao, Jefferson C Sinson, et al.
NPJ Genomic Medicine
|
February 16, 2022
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
Sen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, et al.
Human Mutation
|
September 1, 2019
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease
Weisheng Chen, Jiachen Lin, Lianlei Wang, et al.
Brain : a Journal of Neurology
|
March 4, 2023
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment
Fang Liu, Chen Liang, Zhengchang Li, et al.
HGG Advances
|
May 1, 2023
Rare variant enrichment analysis supports <i>GREB1L</i> as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome
Angad Jolly, Haowei Du, Christelle Borel, et al.
Molecular Genetics & Genomic Medicine
|
November 28, 2019
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1
Mao 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 data
Jiaqi Liu, Hengqiang Zhao, Yu Zheng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 16, 2022
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome
Congcong Ma, Na Chen, Angad Jolly, et al.
Elife
|
July 15, 2025
EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis
Lianlei Wang, Xinyu Yang, Sen Zhao, et al.
Page
of 35