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

Peter L Nagy

Showing results (31-40 of 44) with videos related to

Pageof 5
Sort By:
The Journal of Molecular Diagnostics : JMD|February 24, 2023
Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal CasesM Anwar Iqbal, Ulrich Broeckel, Brynn Levy, et al.
Neurology. Genetics|April 12, 2016
Phenotypic and molecular analyses of primary lateral sclerosisHiroshi Mitsumoto, Peter L Nagy, Chris Gennings, et al.
European Journal of Medical Genetics|September 5, 2016
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletionHemant Varma, Phyllis L Faust, Alejandro D Iglesias, et al.
Cell Reports|May 19, 2021
The histone H3K9M mutation synergizes with H3K14 ubiquitylation to selectively sequester histone H3K9 methyltransferase Clr4 at heterochromatinChun-Min Shan, Jin-Kwang Kim, Jiyong Wang, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcomaSarah Tannenbaum-Dvir, Julia L Glade Bender, Alanna J Church, et al.
Plos Genetics|September 7, 2013
Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylationAnupam Paliwal, Alexis M Temkin, Kristi Kerkel, et al.
Neurology. Genetics|August 31, 2017
Ultra-rare mutations in <i>SRCAP</i> segregate in Caribbean Hispanic families with Alzheimer diseaseBadri N Vardarajan, Giuseppe Tosto, Roger Lefort, et al.
Genome Medicine|November 2, 2016
A case study of an integrative genomic and experimental therapeutic approach for rare tumors: identification of vulnerabilities in a pediatric poorly differentiated carcinomaFilemon S Dela Cruz, Daniel Diolaiti, Andrew T Turk, et al.
Human Molecular Genetics|August 2, 2014
Analysis of the ABCA4 genomic locus in Stargardt diseaseJana Zernant, Yajing Angela Xie, Carmen Ayuso, et al.
Journal of Inherited Metabolic Disease|July 26, 2018
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathyCurtis R Coughlin, Michael A Swanson, Elaine Spector, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
The Journal of Molecular Diagnostics : JMD|February 24, 2023
Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal CasesM Anwar Iqbal, Ulrich Broeckel, Brynn Levy, et al.
Neurology. Genetics|April 12, 2016
Phenotypic and molecular analyses of primary lateral sclerosisHiroshi Mitsumoto, Peter L Nagy, Chris Gennings, et al.
European Journal of Medical Genetics|September 5, 2016
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletionHemant Varma, Phyllis L Faust, Alejandro D Iglesias, et al.
Cell Reports|May 19, 2021
The histone H3K9M mutation synergizes with H3K14 ubiquitylation to selectively sequester histone H3K9 methyltransferase Clr4 at heterochromatinChun-Min Shan, Jin-Kwang Kim, Jiyong Wang, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcomaSarah Tannenbaum-Dvir, Julia L Glade Bender, Alanna J Church, et al.
Plos Genetics|September 7, 2013
Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylationAnupam Paliwal, Alexis M Temkin, Kristi Kerkel, et al.
Neurology. Genetics|August 31, 2017
Ultra-rare mutations in <i>SRCAP</i> segregate in Caribbean Hispanic families with Alzheimer diseaseBadri N Vardarajan, Giuseppe Tosto, Roger Lefort, et al.
Genome Medicine|November 2, 2016
A case study of an integrative genomic and experimental therapeutic approach for rare tumors: identification of vulnerabilities in a pediatric poorly differentiated carcinomaFilemon S Dela Cruz, Daniel Diolaiti, Andrew T Turk, et al.
Human Molecular Genetics|August 2, 2014
Analysis of the ABCA4 genomic locus in Stargardt diseaseJana Zernant, Yajing Angela Xie, Carmen Ayuso, et al.
Journal of Inherited Metabolic Disease|July 26, 2018
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathyCurtis R Coughlin, Michael A Swanson, Elaine Spector, et al.
Pageof 5