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

Federico A Santoni

Showing results (1-10 of 37) with videos related to

Pageof 4
Sort By:
Retrovirology|December 21, 2012
HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotencyFederico A Santoni, Jessica Guerra, Jeremy Luban
Nature Communications|July 26, 2019
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traitsEleonora Porcu, Sina Rüeger, Kaido Lepik, et al.
Genomics Data|October 21, 2015
Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21Youssef Hibaoui, Iwona Grad, Audrey Letourneau, et al.
Briefings in Bioinformatics|February 28, 2022
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applicationsMelivoia Rapti, Yassine Zouaghi, Jenny Meylan, et al.
Genome Research|January 7, 2014
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMasterFederico A Santoni, Periklis Makrythanasis, Sergey Nikolaev, et al.
American Journal of Human Genetics|February 14, 2017
Detection of Imprinted Genes by Single-Cell Allele-Specific Gene ExpressionFederico A Santoni, Georgios Stamoulis, Marco Garieri, et al.
Human Genomics|July 17, 2016
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigreePeriklis Makrythanasis, Michel Guipponi, Federico A Santoni, et al.
Bone|September 3, 2014
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasiaMarie-Hélène Gannagé-Yared, Periklis Makrythanasis, Eliane Chouery, et al.
Genome Medicine|August 11, 2022
Limited evidence for blood eQTLs in human sexual dimorphismEleonora Porcu, Annique Claringbould, Antoine Weihs, et al.
EMBO Molecular Medicine|December 31, 2013
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21Youssef Hibaoui, Iwona Grad, Audrey Letourneau, et al.
Pageof 4

Showing results (1-10 of 37) with videos related to

Sort By:
Pageof 4
Retrovirology|December 21, 2012
HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotencyFederico A Santoni, Jessica Guerra, Jeremy Luban
Nature Communications|July 26, 2019
Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traitsEleonora Porcu, Sina Rüeger, Kaido Lepik, et al.
Genomics Data|October 21, 2015
Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21Youssef Hibaoui, Iwona Grad, Audrey Letourneau, et al.
Briefings in Bioinformatics|February 28, 2022
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applicationsMelivoia Rapti, Yassine Zouaghi, Jenny Meylan, et al.
Genome Research|January 7, 2014
Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMasterFederico A Santoni, Periklis Makrythanasis, Sergey Nikolaev, et al.
American Journal of Human Genetics|February 14, 2017
Detection of Imprinted Genes by Single-Cell Allele-Specific Gene ExpressionFederico A Santoni, Georgios Stamoulis, Marco Garieri, et al.
Human Genomics|July 17, 2016
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigreePeriklis Makrythanasis, Michel Guipponi, Federico A Santoni, et al.
Bone|September 3, 2014
Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasiaMarie-Hélène Gannagé-Yared, Periklis Makrythanasis, Eliane Chouery, et al.
Genome Medicine|August 11, 2022
Limited evidence for blood eQTLs in human sexual dimorphismEleonora Porcu, Annique Claringbould, Antoine Weihs, et al.
EMBO Molecular Medicine|December 31, 2013
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21Youssef Hibaoui, Iwona Grad, Audrey Letourneau, et al.
Pageof 4