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

Nadia Boutry-Kryza

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

Pageof 4
Sort By:
La Revue Du Praticien|May 10, 2011
[Genetic tools]Nadia Boutry-Kryza, Damien Sanlaville
Genes|November 27, 2021
Identification and Characterization of New <i>Alu</i> Element Insertion in the <i>BRCA1</i> Exon 14 Associated with Hereditary Breast and Ovarian CancerAhmed Bouras, Melanie Leone, Valerie Bonadona, et al.
American Journal of Medical Genetics. Part A|December 14, 2011
An 800  kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17pNadia Boutry-Kryza, Audrey Labalme, Marianne Till, et al.
International Journal of Molecular Sciences|January 21, 2022
Identification and Characterization of an Exonic Duplication in <i>PALB2</i> in a Man with Synchronous Breast and Prostate CancerAhmed Bouras, Cyril Lafaye, Melanie Leone, et al.
Epilepsia|June 14, 2013
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) currentStephan Lauxmann, Nadia Boutry-Kryza, Clotilde Rivier, et al.
American Journal of Medical Genetics. Part A|April 10, 2014
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girlNadia Boutry-Kryza, Dorothée Ville, Audrey Labalme, et al.
Journal of Medical Genetics|January 15, 2013
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformationsCaroline Schluth-Bolard, Audrey Labalme, Marie-Pierre Cordier, et al.
Familial Cancer|February 7, 2025
Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencingMorgane Boedec, Camille Aucouturier, Mathias Cavaillé, et al.
European Journal of Human Genetics : EJHG|October 22, 2015
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1Ali Abdullah Alfaiz, Verena Müller, Nadia Boutry-Kryza, et al.
Epilepsia|June 29, 2012
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autismGaetan Lesca, Gabrielle Rudolf, Audrey Labalme, et al.
Pageof 4

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

Sort By:
Pageof 4
La Revue Du Praticien|May 10, 2011
[Genetic tools]Nadia Boutry-Kryza, Damien Sanlaville
Genes|November 27, 2021
Identification and Characterization of New <i>Alu</i> Element Insertion in the <i>BRCA1</i> Exon 14 Associated with Hereditary Breast and Ovarian CancerAhmed Bouras, Melanie Leone, Valerie Bonadona, et al.
American Journal of Medical Genetics. Part A|December 14, 2011
An 800  kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17pNadia Boutry-Kryza, Audrey Labalme, Marianne Till, et al.
International Journal of Molecular Sciences|January 21, 2022
Identification and Characterization of an Exonic Duplication in <i>PALB2</i> in a Man with Synchronous Breast and Prostate CancerAhmed Bouras, Cyril Lafaye, Melanie Leone, et al.
Epilepsia|June 14, 2013
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) currentStephan Lauxmann, Nadia Boutry-Kryza, Clotilde Rivier, et al.
American Journal of Medical Genetics. Part A|April 10, 2014
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girlNadia Boutry-Kryza, Dorothée Ville, Audrey Labalme, et al.
Journal of Medical Genetics|January 15, 2013
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformationsCaroline Schluth-Bolard, Audrey Labalme, Marie-Pierre Cordier, et al.
Familial Cancer|February 7, 2025
Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencingMorgane Boedec, Camille Aucouturier, Mathias Cavaillé, et al.
European Journal of Human Genetics : EJHG|October 22, 2015
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1Ali Abdullah Alfaiz, Verena Müller, Nadia Boutry-Kryza, et al.
Epilepsia|June 29, 2012
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autismGaetan Lesca, Gabrielle Rudolf, Audrey Labalme, et al.
Pageof 4