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Jiachen Lin

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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.

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.

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Search research articles

Showing results (41-50 of 44) with videos related to

Sort By:

Pageof 5

You have reached the last page of results.This site can display upto 44 results.

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.

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.

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