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

Paul Kuentz

Showing results (41-50 of 75) with videos related to

Pageof 8
Sort By:
European Journal of Human Genetics : EJHG|September 24, 2015
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingSophie Nambot, Alice Masurel, Salima El Chehadeh, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
Nature Genetics|October 2, 2019
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Human Molecular Genetics|June 2, 2012
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspotsElias Elinati, Paul Kuentz, Claire Redin, et al.
Nature Genetics|February 9, 2020
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Journal of Medical Genetics|October 8, 2025
<i>ACTB</i> deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literatureMarion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer, et al.
European Journal of Human Genetics : EJHG|April 26, 2019
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive testsChristel Thauvin-Robinet, Julien Thevenon, Sophie Nambot, et al.
American Journal of Medical Genetics. Part A|October 5, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndromeGuillaume Jouret, Matthieu Egloff, Emilie Landais, et al.
European Journal of Medical Genetics|August 16, 2017
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnosesAurélie Bourchany, Christel Thauvin-Robinet, Daphné Lehalle, et al.
Cell Stem Cell|January 1, 2019
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3Florian Villegas, Daphné Lehalle, Daniela Mayer, et al.
Pageof 8

Showing results (41-50 of 75) with videos related to

Sort By:
Pageof 8
European Journal of Human Genetics : EJHG|September 24, 2015
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingSophie Nambot, Alice Masurel, Salima El Chehadeh, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
Nature Genetics|October 2, 2019
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Human Molecular Genetics|June 2, 2012
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspotsElias Elinati, Paul Kuentz, Claire Redin, et al.
Nature Genetics|February 9, 2020
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Journal of Medical Genetics|October 8, 2025
<i>ACTB</i> deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literatureMarion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer, et al.
European Journal of Human Genetics : EJHG|April 26, 2019
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive testsChristel Thauvin-Robinet, Julien Thevenon, Sophie Nambot, et al.
American Journal of Medical Genetics. Part A|October 5, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndromeGuillaume Jouret, Matthieu Egloff, Emilie Landais, et al.
European Journal of Medical Genetics|August 16, 2017
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnosesAurélie Bourchany, Christel Thauvin-Robinet, Daphné Lehalle, et al.
Cell Stem Cell|January 1, 2019
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3Florian Villegas, Daphné Lehalle, Daniela Mayer, et al.
Pageof 8