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

Bertrand Isidor

Showing results (161-170 of 365) with videos related to

Pageof 37
Sort By:
Orphanet Journal of Rare Diseases|May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Epilepsia|October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 casesChloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
Journal of Medical Genetics|August 20, 2025
Resolving structural variations missed by short-read sequencing uncovers their pathogenicityCaroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, et al.
International Journal of Molecular Sciences|July 27, 2022
DNA Methylation Signature for <i>JARID2</i>-Neurodevelopmental SyndromeEline A Verberne, Liselot van der Laan, Sadegheh Haghshenas, et al.
American Journal of Medical Genetics. Part A|October 24, 2023
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variantsSoha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, et al.
American Journal of Human Genetics|May 11, 2020
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant CiliopathyBenjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaHélène Cavé, Aurélie Caye, Nehla Ghedira, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
LHX2 haploinsufficiency causes a variable neurodevelopmental disorderCosima M Schmid, Anne Gregor, Gregory Costain, et al.
HGG Advances|August 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorderJames Chettle, Raymond J Louie, Olivia Larner, et al.
Pageof 37

Showing results (161-170 of 365) with videos related to

Sort By:
Pageof 37
Orphanet Journal of Rare Diseases|May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Epilepsia|October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 casesChloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
Journal of Medical Genetics|August 20, 2025
Resolving structural variations missed by short-read sequencing uncovers their pathogenicityCaroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier, et al.
Human Mutation|June 17, 2015
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional CharacterizationFrederic Brioude, Irène Netchine, Francoise Praz, et al.
International Journal of Molecular Sciences|July 27, 2022
DNA Methylation Signature for <i>JARID2</i>-Neurodevelopmental SyndromeEline A Verberne, Liselot van der Laan, Sadegheh Haghshenas, et al.
American Journal of Medical Genetics. Part A|October 24, 2023
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variantsSoha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, et al.
American Journal of Human Genetics|May 11, 2020
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant CiliopathyBenjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaHélène Cavé, Aurélie Caye, Nehla Ghedira, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
LHX2 haploinsufficiency causes a variable neurodevelopmental disorderCosima M Schmid, Anne Gregor, Gregory Costain, et al.
HGG Advances|August 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorderJames Chettle, Raymond J Louie, Olivia Larner, et al.
Pageof 37