Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Pengfei Liu

Showing results (1131-1140 of 1,193) with videos related to

Pageof 120
Sort By:
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.
Cell|March 5, 2019
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2Christine R Beck, Claudia M B Carvalho, Zeynep C Akdemir, et al.
American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.
American Journal of Human Genetics|November 1, 2019
A Genocentric Approach to Discovery of Mendelian DisordersAdam W Hansen, Mullai Murugan, He Li, et al.
Kidney International|May 26, 2020
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndromeNan Yang, Nan Wu, Shuangshuang Dong, et al.
Human Mutation|September 16, 2020
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published casesXimena Montenegro-Garreaud, Adam W Hansen, Michael M Khayat, et al.
Msystems|June 1, 2026
Mapping the soil microbiome functions shaping wetland methane emissionsMikayla A Borton, Angela M Oliverio, Adrienne B Narrowe, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathiesChun-An Chen, John Lattier, Wenmiao Zhu, et al.
Pageof 120

Showing results (1131-1140 of 1,193) with videos related to

Sort By:
Pageof 120
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.
Cell|March 5, 2019
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2Christine R Beck, Claudia M B Carvalho, Zeynep C Akdemir, et al.
American Journal of Human Genetics|September 13, 2016
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsKarin Weiss, Paulien A Terhal, Lior Cohen, et al.
American Journal of Human Genetics|November 1, 2019
A Genocentric Approach to Discovery of Mendelian DisordersAdam W Hansen, Mullai Murugan, He Li, et al.
Kidney International|May 26, 2020
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndromeNan Yang, Nan Wu, Shuangshuang Dong, et al.
Human Mutation|September 16, 2020
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published casesXimena Montenegro-Garreaud, Adam W Hansen, Michael M Khayat, et al.
Msystems|June 1, 2026
Mapping the soil microbiome functions shaping wetland methane emissionsMikayla A Borton, Angela M Oliverio, Adrienne B Narrowe, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathiesChun-An Chen, John Lattier, Wenmiao Zhu, et al.
Pageof 120