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

Michel Guipponi

Showing results (41-50 of 83) with videos related to

Pageof 9
Sort By:
Stem Cells (Dayton, Ohio)|February 4, 2015
Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21Alexis Bosman, Audrey Letourneau, Laura Sartiani, et al.
Genes|August 27, 2021
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing LossRoxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, et al.
Cancer Research|December 4, 2012
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomasSergey I Nikolaev, Sotirios K Sotiriou, Ioannis S Pateras, et al.
American Journal of Human Genetics|January 6, 2015
Biased allelic expression in human primary fibroblast single cellsChristelle Borel, Pedro G Ferreira, Federico Santoni, et al.
Journal of Human Genetics|May 3, 2018
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected motherNelle Lambert, Corinne Dauve, Emmanuelle Ranza, et al.
Nature Communications|December 5, 2014
Extrachromosomal driver mutations in glioblastoma and low-grade gliomaSergey Nikolaev, Federico Santoni, Marco Garieri, et al.
Plos One|August 29, 2015
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic TwinsM Reza Sailani, Federico A Santoni, Audrey Letourneau, et al.
American Journal of Medical Genetics. Part A|July 7, 2020
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)Maria Teresa Carminho-Rodrigues, Dora Steel, Sergio B Sousa, et al.
Human Molecular Genetics|May 18, 2018
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3Muhammad Ansar, Hyunglok Chung, Yar M Waryah, et al.
Human Mutation|January 25, 2021
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patientsSacha Laurent, Corinne Gehrig, Thierry Nouspikel, et al.
Pageof 9

Showing results (41-50 of 83) with videos related to

Sort By:
Pageof 9
Stem Cells (Dayton, Ohio)|February 4, 2015
Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21Alexis Bosman, Audrey Letourneau, Laura Sartiani, et al.
Genes|August 27, 2021
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing LossRoxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, et al.
Cancer Research|December 4, 2012
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomasSergey I Nikolaev, Sotirios K Sotiriou, Ioannis S Pateras, et al.
American Journal of Human Genetics|January 6, 2015
Biased allelic expression in human primary fibroblast single cellsChristelle Borel, Pedro G Ferreira, Federico Santoni, et al.
Journal of Human Genetics|May 3, 2018
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected motherNelle Lambert, Corinne Dauve, Emmanuelle Ranza, et al.
Nature Communications|December 5, 2014
Extrachromosomal driver mutations in glioblastoma and low-grade gliomaSergey Nikolaev, Federico Santoni, Marco Garieri, et al.
Plos One|August 29, 2015
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic TwinsM Reza Sailani, Federico A Santoni, Audrey Letourneau, et al.
American Journal of Medical Genetics. Part A|July 7, 2020
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)Maria Teresa Carminho-Rodrigues, Dora Steel, Sergio B Sousa, et al.
Human Molecular Genetics|May 18, 2018
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3Muhammad Ansar, Hyunglok Chung, Yar M Waryah, et al.
Human Mutation|January 25, 2021
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patientsSacha Laurent, Corinne Gehrig, Thierry Nouspikel, et al.
Pageof 9