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

Timothy W Yu

Showing results (31-40 of 92) with videos related to

Pageof 10
Sort By:
Plos Genetics|April 19, 2012
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autismMaria H Chahrour, Timothy W Yu, Elaine T Lim, et al.
American Journal of Medical Genetics. Part A|February 6, 2020
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testingAlissa M D'Gama, William J Brucker, Tian Zhang, et al.
Neuron|December 16, 2016
Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell FateDivya Jayaraman, Andrew Kodani, Dilenny M Gonzalez, et al.
Neuromuscular Disorders : NMD|October 17, 2013
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2Satomi Mitsuhashi, Steven E Boyden, Elicia A Estrella, et al.
European Journal of Medical Genetics|November 2, 2013
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this conditionCatherine A Brownstein, Meghan C Towne, Lovelace J Luquette, et al.
American Journal of Medical Genetics. Part A|June 11, 2016
BRAT1 mutations present with a spectrum of clinical severitySiddharth Srivastava, Heather E Olson, Julie S Cohen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 27, 2021
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq ProjectMonica H Wojcik, Tian Zhang, Ozge Ceyhan-Birsoy, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|August 10, 2019
Infant mortality: the contribution of genetic disordersMonica H Wojcik, Talia S Schwartz, Katri E Thiele, et al.
Elife|August 23, 2015
Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplicationAndrew Kodani, Timothy W Yu, Jeffrey R Johnson, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 24, 2023
Are we prepared to deliver gene-targeted therapies for rare diseases?Timothy W Yu, Stephen F Kingsmore, Robert C Green, et al.
Pageof 10

Showing results (31-40 of 92) with videos related to

Sort By:
Pageof 10
Plos Genetics|April 19, 2012
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autismMaria H Chahrour, Timothy W Yu, Elaine T Lim, et al.
American Journal of Medical Genetics. Part A|February 6, 2020
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testingAlissa M D'Gama, William J Brucker, Tian Zhang, et al.
Neuron|December 16, 2016
Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell FateDivya Jayaraman, Andrew Kodani, Dilenny M Gonzalez, et al.
Neuromuscular Disorders : NMD|October 17, 2013
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2Satomi Mitsuhashi, Steven E Boyden, Elicia A Estrella, et al.
European Journal of Medical Genetics|November 2, 2013
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this conditionCatherine A Brownstein, Meghan C Towne, Lovelace J Luquette, et al.
American Journal of Medical Genetics. Part A|June 11, 2016
BRAT1 mutations present with a spectrum of clinical severitySiddharth Srivastava, Heather E Olson, Julie S Cohen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 27, 2021
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq ProjectMonica H Wojcik, Tian Zhang, Ozge Ceyhan-Birsoy, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|August 10, 2019
Infant mortality: the contribution of genetic disordersMonica H Wojcik, Talia S Schwartz, Katri E Thiele, et al.
Elife|August 23, 2015
Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplicationAndrew Kodani, Timothy W Yu, Jeffrey R Johnson, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 24, 2023
Are we prepared to deliver gene-targeted therapies for rare diseases?Timothy W Yu, Stephen F Kingsmore, Robert C Green, et al.
Pageof 10