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

Alexandre Reymond

Showing results (61-70 of 169) with videos related to

Pageof 17
Sort By:
Genome Medicine|August 11, 2022
Limited evidence for blood eQTLs in human sexual dimorphismEleonora Porcu, Annique Claringbould, Antoine Weihs, et al.
NPJ Genomic Medicine|November 12, 2021
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorderFrancesca Mattioli, Hossein Darvish, Sohail Aziz Paracha, et al.
Nature|December 6, 2002
Numerous potentially functional but non-genic conserved sequences on human chromosome 21Emmanouil T Dermitzakis, Alexandre Reymond, Robert Lyle, et al.
Plos Genetics|October 26, 2005
Evolutionary comparison provides evidence for pathogenicity of RMRP mutationsLuisa Bonafé, Emmanouil T Dermitzakis, Sheila Unger, et al.
Plos Genetics|February 13, 2016
Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication SyndromesThomas Arbogast, Abdel-Mouttalib Ouagazzal, Claire Chevalier, et al.
Human Genetics|July 16, 2005
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the proteinMarie Wattenhofer, Nilüfer Sahin-Calapoglu, Ditte Andreasen, et al.
European Journal of Human Genetics : EJHG|February 11, 2016
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasiaGaetano Terrone, Norine Voisin, Ali Abdullah Alfaiz, et al.
Epigenetics & Chromatin|May 18, 2023
Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocationsAdriana Di-Battista, Bianca Pereira Favilla, Malú Zamariolli, et al.
Prenatal Diagnosis|November 19, 2019
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathySara Cabet, Audrey Putoux, Annie Buenerd, et al.
Nature Genetics|December 29, 2005
Conserved noncoding sequences are selectively constrained and not mutation cold spotsJared A Drake, Christine Bird, James Nemesh, et al.
Pageof 17

Showing results (61-70 of 169) with videos related to

Sort By:
Pageof 17
Genome Medicine|August 11, 2022
Limited evidence for blood eQTLs in human sexual dimorphismEleonora Porcu, Annique Claringbould, Antoine Weihs, et al.
NPJ Genomic Medicine|November 12, 2021
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorderFrancesca Mattioli, Hossein Darvish, Sohail Aziz Paracha, et al.
Nature|December 6, 2002
Numerous potentially functional but non-genic conserved sequences on human chromosome 21Emmanouil T Dermitzakis, Alexandre Reymond, Robert Lyle, et al.
Plos Genetics|October 26, 2005
Evolutionary comparison provides evidence for pathogenicity of RMRP mutationsLuisa Bonafé, Emmanouil T Dermitzakis, Sheila Unger, et al.
Plos Genetics|February 13, 2016
Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication SyndromesThomas Arbogast, Abdel-Mouttalib Ouagazzal, Claire Chevalier, et al.
Human Genetics|July 16, 2005
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the proteinMarie Wattenhofer, Nilüfer Sahin-Calapoglu, Ditte Andreasen, et al.
European Journal of Human Genetics : EJHG|February 11, 2016
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasiaGaetano Terrone, Norine Voisin, Ali Abdullah Alfaiz, et al.
Epigenetics & Chromatin|May 18, 2023
Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocationsAdriana Di-Battista, Bianca Pereira Favilla, Malú Zamariolli, et al.
Prenatal Diagnosis|November 19, 2019
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathySara Cabet, Audrey Putoux, Annie Buenerd, et al.
Nature Genetics|December 29, 2005
Conserved noncoding sequences are selectively constrained and not mutation cold spotsJared A Drake, Christine Bird, James Nemesh, et al.
Pageof 17