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

Caroline Rooryck

Showing results (51-60 of 124) with videos related to

Pageof 13
Sort By:
European Journal of Human Genetics : EJHG|June 12, 2014
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi SyndromeEric Bieth, Sanaa Eddiry, Véronique Gaston, et al.
American Journal of Medical Genetics. Part A|March 24, 2019
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1Paul Bonnemason-Carrere, Fanny Morice-Picard, Perrine Pennamen, et al.
Pigment Cell & Melanoma Research|October 15, 2013
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 geneFanny Morice-Picard, Eulalie Lasseaux, Dorothée Cailley, et al.
Clinical Genetics|June 30, 2025
Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental DelaysEtienne Bizot, Dima Jouni, Caroline Rooryck, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 10, 2015
BMP9 and BMP10 are necessary for proper closure of the ductus arteriosusSandrine Levet, Marie Ouarné, Delphine Ciais, et al.
Acta Neuropathologica Communications|April 16, 2020
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelinationAurélien Trimouille, Florent Marguet, Fanny Sauvestre, et al.
Human Molecular Genetics|February 26, 2010
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasiaDelphine Simon, Benoit Laloo, Malika Barillot, et al.
Plos One|August 8, 2015
Identification of Region-Specific Myocardial Gene Expression Patterns in a Chronic Swine Model of Repaired Tetralogy of FallotSabine Charron, François Roubertie, David Benoist, et al.
European Journal of Medical Genetics|February 28, 2012
Atypical male and female presentations of FLNA-related periventricular nodular heterotopiaPatricia Fergelot, Isabelle Coupry, Caroline Rooryck, et al.
Cells|January 21, 2023
Abnormal Cellular Phenotypes Induced by Three <i>TMPO</i>/LAP2 Variants Identified in Men with CardiomyopathiesNathalie Vadrot, Flavie Ader, Maryline Moulin, et al.
Pageof 13

Showing results (51-60 of 124) with videos related to

Sort By:
Pageof 13
European Journal of Human Genetics : EJHG|June 12, 2014
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi SyndromeEric Bieth, Sanaa Eddiry, Véronique Gaston, et al.
American Journal of Medical Genetics. Part A|March 24, 2019
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1Paul Bonnemason-Carrere, Fanny Morice-Picard, Perrine Pennamen, et al.
Pigment Cell & Melanoma Research|October 15, 2013
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 geneFanny Morice-Picard, Eulalie Lasseaux, Dorothée Cailley, et al.
Clinical Genetics|June 30, 2025
Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental DelaysEtienne Bizot, Dima Jouni, Caroline Rooryck, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 10, 2015
BMP9 and BMP10 are necessary for proper closure of the ductus arteriosusSandrine Levet, Marie Ouarné, Delphine Ciais, et al.
Acta Neuropathologica Communications|April 16, 2020
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelinationAurélien Trimouille, Florent Marguet, Fanny Sauvestre, et al.
Human Molecular Genetics|February 26, 2010
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasiaDelphine Simon, Benoit Laloo, Malika Barillot, et al.
Plos One|August 8, 2015
Identification of Region-Specific Myocardial Gene Expression Patterns in a Chronic Swine Model of Repaired Tetralogy of FallotSabine Charron, François Roubertie, David Benoist, et al.
European Journal of Medical Genetics|February 28, 2012
Atypical male and female presentations of FLNA-related periventricular nodular heterotopiaPatricia Fergelot, Isabelle Coupry, Caroline Rooryck, et al.
Cells|January 21, 2023
Abnormal Cellular Phenotypes Induced by Three <i>TMPO</i>/LAP2 Variants Identified in Men with CardiomyopathiesNathalie Vadrot, Flavie Ader, Maryline Moulin, et al.
Pageof 13