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Pengfei Liu

Showing results (1141-1150 of 1,193) with videos related to

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American Journal of Human Genetics|April 9, 2024
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencingShenglan Li, Sen Zhao, Jefferson C Sinson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceKelly Schoch, Cecilia Esteves, Anna Bican, et al.
Endocrine-Related Cancer|March 4, 2016
Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjectsAdrian F Daly, Bo Yuan, Frederic Fina, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2024
Improving access to exome sequencing in a medically underserved population through the Texome ProjectBlake Vuocolo, Ryan J German, Seema R Lalani, 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.
Journal of Medical Genetics|November 17, 2009
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan Shinawi, Pengfei Liu, Sung-Hae L Kang, et al.
Nature Communications|February 19, 2016
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisNatalia Gomez-Ospina, Carol J Potter, Rui Xiao, 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.
Cell|February 25, 2017
An Organismal CNV Mutator Phenotype Restricted to Early Human DevelopmentPengfei Liu, Bo Yuan, Claudia M B Carvalho, 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.
Pageof 120

Showing results (1141-1150 of 1,193) with videos related to

Sort By:
Pageof 120
American Journal of Human Genetics|April 9, 2024
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencingShenglan Li, Sen Zhao, Jefferson C Sinson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceKelly Schoch, Cecilia Esteves, Anna Bican, et al.
Endocrine-Related Cancer|March 4, 2016
Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjectsAdrian F Daly, Bo Yuan, Frederic Fina, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2024
Improving access to exome sequencing in a medically underserved population through the Texome ProjectBlake Vuocolo, Ryan J German, Seema R Lalani, 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.
Journal of Medical Genetics|November 17, 2009
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan Shinawi, Pengfei Liu, Sung-Hae L Kang, et al.
Nature Communications|February 19, 2016
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasisNatalia Gomez-Ospina, Carol J Potter, Rui Xiao, 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.
Cell|February 25, 2017
An Organismal CNV Mutator Phenotype Restricted to Early Human DevelopmentPengfei Liu, Bo Yuan, Claudia M B Carvalho, 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.
Pageof 120